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Is CatWalk sufficient for locomotor analysis?

06. September 2017

Efficient phenotyping is essential for the identification of relevant changes and phenotypes and for the reproducibility of scientific experiments. A number of automated tests have been developed to speed up data acquisition, to make the results more objective and replicable and to reduce the burden on the animal through less handling. In addition, the number of acquired parameters per test is...read more

Paternal diet influences cognitive functions in offspring

28. July 2017

While it is recognized that maternal departures from the optimum of dietary methyl donor intake, such as folic acid, methionine or vitamine B12, can increase the risk for mental health issues and neurological disorders in offspring, it has not been explored whether paternal dietary methyl donor intake influences behavioral and cognitive functions in the next generation.Epigenetic regulation of...read more

Male or female? Disease progress depends on the sex

14. July 2017

The international research consortium IMPC has shown that sex influences the prevalence, course and severity of the majority of common diseases and disorders. The German Mouse Clinic, Helmholtz Zentrum München, played an important role in this study, published in Nature Communications. The analyzed data illustrate the differences between male and female mice – known as sexual dimorphism - and the...read more

SRF and its role in acute stress response

28. April 2017

The brain is the central organ that ensures immediate and long-term adaptions to stress. Acute stress (AS) and chronic stress (CS) induce several – and distinct – responses including body weight adaption, metabolic and cardiovascular changes, altered memory, learning, locomotor and exploratory behavior. One major neuroendocrine response mechanism to stress is regulated by the...read more

Spermidine – cardioprotection and life span extension

21. April 2017

Cardiovascular disease has reached epidemic proportions in the aging society and remains the worldwide leading cause of death. This publication shows that the natural spermidine protects the heart from age associated deteriorations and suggests a new and feasible strategy for the prevention of cardiovascular disease. It is known that human aging is accompanied by cardiac hypertrophic remodeling...read more

AOX integration as a tool to study mitochondrial pathology

31. March 2017

In many lower organism and plants, alternative oxidases (AOXs) are expressed that bypass the mitochondrial respiratory chain by transferring electrons directly from ubiquinol to oxygen in a non-proton-motive manner. Their main physiological role is to maintain electron flow under conditions when the classical respiratory chain is impaired, limiting excess production of oxygen radicals and...read more

Scube 3 – a mouse model for Paget disease of bone?

03. February 2017

The vertebrate Scube (Signal peptide, CUB and EGF-like domain-containing protein) family consists of three independent members Scube1-3, which encode secreted cell surface-associated membrane glycoproteins. Little is known about the general function of this gene family, and the roles of the family members during adulthood. However, one major function appears to be in bone development and...read more

Conjugated glucagon & thyroid hormones – novel therapeutic...

03. February 2017

Dyslipidemia, including hypercholesterolemia and hypertriglyceridemia, represents a hallmark of the metabolic syndrome and triggers a host of obesity-associated comorbidities. Thyroid hormones powerfully influence systemic metabolism through multiple pathways, with profound effects on energy expenditure, fat oxidation, and cholesterol metabolism. However, when used as thyroid hormone treatment,...read more

Sms1 and its role in male infertility

03. February 2017

Sphingolipids are essential components of cellular membranes and are required for lipid raft formation. Sphingomyelin synthase 1 (SMS1/SGMS1) and the isoenzyme SMS2 both catalyze the de novo synthesis of sphingomyelin (SM) and diacylglycerol (DAG) from ceramide (Cer) and phosphatidylcholine (PC).SM and other complex sphingolipids (SL) have various functions in structure, adhesion and signaling....read more

Ednra – mouse model for human mandibulofacial dysostosis with...

16. December 2016

Endothelin 1 (EDN1,2)–endothelin receptor type A (EDNRA) signaling seems to play an important role in normal craniofacial development in humans as well as in animal models. A viable dominant mouse model carrying a non-synonymous sequence variation within the endothelin receptor type A gene (Ednra c.386A[T, p.Tyr129Phe) was derived by an ENU mutagenesis program. Recently the identical amino acid...read more

Soluble biglycan induces EPO production and polycythemia

25. November 2016

Polycythemia is a disease characterized by an increased number of mature erythrocytes in the circulation causing enhanced blood viscosity and thereby augmenting the clinical risk of thrombosis, cardiac infarction and stroke. Primary polycythemia (polycythemia rubra vera or Vaquez’ disease) is a chronic myeloproliferative disorder of the bone marrow marked by enhanced number of erythrocytes,...read more

CIP2As function in the immune system

30. September 2016

The oncoprotein Cancerous Inhibitor of Protein Phosphatase 2A (CIP2A) has been documented to be a clinically relevant oncoprotein in the majority of solid and hematological human cancers. It is overexpressed in most malignancies and is an obvious candidate target protein for future cancer therapies. However, the physiological importance of CIP2A-mediated PP2A inhibition is largely unknown. As the...read more

Pts and its role in obesity

16. September 2016

Tetrahydrobiopterin (BH4) is an essential cofactor for the aromatic amino acid hydroxylases, alkylglycerol monooxygenase, and nitric oxide synthases (NOS). BH4 deficiency in humans is a heterogeneous group of rare disorders associated with a spectrum of phenotypes ranging from mild, peripheral symptoms including hyperphenylalaninemia (HPA) due to lowered hepatic PAH activity to severe morbidity...read more

Volatile organic compounds in obesity mouse models

Comparison of volatile organic compounds in diet-induced and mono-genetic obese mice. 22. June 2016

Obesity is a worldwide epidemic linked to a number of co-morbidities, such as diabetes, cardiovascular disease, dyslipidemia and certain types of cancers. Easily accessible biomarkers are central to the assessment of individual risks of patients suffering from such pathologies and developing personalized medicine approaches for prevention and treatment.A variety of normal and disease associated...read more

Pou3F3 - various phenotypic variations in the mutant

20. May 2016

The causative mutation in the ENU mutagenesis-derived recessive mutant mouse line HST011, a mouse line showing increased plasma urea levels as an indicator for kidney disease, was identified in the Pou3f3 gene. POU transcription factors regulate a variety of developmental processes. POU3F3 plays a role in neuronal development and is expressed in the developing neocortex, both in the late...read more

DCXCreERT2 – deciphering the role of adult neurogenesis

17. May 2016

The birth and assimilation of new neurons in the adult brain – adult neurogenesis – occurs in two regions: the subgranular zone (SGZ) of the hippocampal dentate gyrus and the subventricular zone (SVZ) along the walls of the lateral ventricles. Through a multi-stage process the newly born neurons become integrated into the existing hippocampal and Olfactory bulb (OB) circuitry. Several...read more

MFAP4 promotes repair in vascular injuries

06. May 2016

Arterial injury stimulates remodeling responses. The regulation of these processes is important because excessive tissue formation leads to stenosis. Integrin signaling seems to be responsible for these processes. Microfibrillar-associated protein 4 (MFAP4) is an integrin ligand associated with extracellular matrix fibers in vascular walls and other tissues. It has been shown to play a role in...read more

Increased E/A ratio alters liver metabolism

26. April 2016

The influence of the sex steroid hormones estrogens and androgens on metabolism is object of several studies. Estrogens are suggested to lower the risk of developing metabolic syndrome in both sexes. In males the estrogen-to-androgen ratio (E/A) is important for normal development, especially concerning epiphyseal closure, bone density and reproductive functions. In this study the effect of a...read more

eIF6 – Target for obesity, T2D and cancer

15. April 2016

Insulin controls glycaemia, regulates lipogenesis, and increases mRNA translation. The role of insulin-regulated translation is unknown so far but cells with reduced eukaryotic initiation factor 6 (eIF6) do not increase translation in response to insulin. Therefore, to obtain more detailed insights into the function of eIF6, mice heterozygous for eIF6 and wildtype littermates were investigated....read more

HMGN1 and 2 can compensate for each other

08. April 2016

HMGN1 and HMGN2 are ubiquitously expressed nucleosome-binding proteins. The study showed that the two genes synergistically maintain the DNase I hypersensitive sites (DHSs) landscape of mouse embryonic fibroblasts (MEFs). DHSs are characteristic for chromatin regions containing regulatory DNA elements. Loss of one of these HMGN variants led to a compensatory increase of binding of the remaining...read more

Strategy to identify promising mouse lines for airway challenge

18. March 2016

The influence of genetic and environmental factors on the susceptibility of disease is still studied intensively. The standard systematic primary phenotyping procedure in the German Mouse Clinic provides (among many other data) original data from allergy and immunology screens under standard husbandry conditions. The data sets of hundreds of mutant mouse lines were used by Horsch et al. to...read more

TFB1M - Insights into sensorineural deafness

11. March 2016

Sensorineural deafness can be caused by mitochondrial dysfunction and several causative mutations in mitochondrial DNA as well as in mitochondrial translation have been described. However, the pathomechanisms are yet not fully understood. The A1555G mutation in the mitochondrial 12S rRNA gene causes sensorineural deafness to various degrees suggesting the influence of modifying events. Recently...read more

Awards for Irina Treise at the IMGC

20. November 2015

Irina Treise, head of the immunology screen of the German Mouse Clinic, has been awarded at the 29th International Mouse Genome Conference (08.-11.11.2015) with theLorraine Flaherty Award in recognition of an outstanding oral presentation in the Trainee Symposium, and theaward "in recognition of an outstanding research poster She presented the identification of a novel molecular...read more

Bundesverdienstkreuz für Dr. Husemann

01. October 2015

A few years ago Dr. Frank Husemann initiated a research collaboration between Susan L. Cotmans Lab who has a mouse model for Juvenile neuronal lipofuscinosis (JNCL) and the German Mouse Clinic. This autosomal recessive disease leads in children to a number of neurological defects involving seizures, visual, motor and cognitive decline, and premature death. It is caused by mutations in the CLN3...read more

EUMODIC study reveals the role of genes in disease

28. July 2015

The role of over 300 genes has been revealed by scientists across Europe in a major initiative to understand the part they play in disease and biology. The results have now been published in the journal ‘Nature Genetics’.Since mice share 90 percent of our genes they play an important role in understanding human genetics. The European Mouse Disease Clinic (EUMODIC) brought together scientists...read more

MIM - Initiation mechanism for dendritic spines

03. July 2015

Researchers from the University of Helsinki, ETH Zürich, Aix-Marseille and the German Mouse Clinic teamed up to investigate the initiation process of dendritic spines. They discovered that protein called MIM bends the plasma membrane to aid the formation of dendritic spines from the surface of the neuronal dendrite.The discovery is important, as most of the neuronal connections, called...read more

HTP protocol for detection of cardiac pathologies

13. March 2015

Reduced systolic and/or diastolic heart function can be caused by multiple cardiovascular events such as myocardial infarction, chronic hypertension or chronic valve disease. Loss of cardiomyocytes and pathological cardiac remodeling in combination with apparent clinical symptoms are summarized as heart failure (HF). HF not only results in a significant decrease in the quality of life but is also...read more

MTO1 - mouse model mirrows human phenotype

13. February 2015

Mutations in nuclear-encoded mitochondrial genes or mitochondrial DNA (mtDNA) lead to a plethora of metabolic, cardiovascular and neurodegenerative diseases and are a main culprit in aging. Defects in translation of mitochondria-encoded genes are increasingly recognized as a cause of human mitochondriopathies. Mutations in the human Mitochondrial Optimization Factor 1 (MTO1), a tRNA modifier,...read more

AOC3 – modelling allergic inflammation

10. February 2015

The immunopathogenesis of asthma involves complex cross-talk between airway epithelial cells, dendritic cells (DCs) and other cells of the innate immune system, and T cells. Although leukocyte migration to airways is a prerequisite for the pathogenesis of asthma, the molecular mechanisms controlling the multistep extravasation cascade of different subsets of leukocytes to airways are not fully...read more

Slc12a1I299F – mouse mutation mimicks human phenotype (and more)

06. February 2015

Type I Bartter syndrome is a rare hereditary recessive human kidney disease with a severe urinary concentration defect due to impaired ion transport capacity of ion transporter NKCC2 in the thick ascending limb of Henle’s loop. The nephropathy is caused by loss-of-function mutations in SLC12A1, the gene coding for the Na+-K+-2Cl− co-transporter NKCC2. A mouse line carrying the mutation I299F in...read more

Zscan10 – maintainance of a multipotent progenitor cell...

05. December 2014

Zscan10 (previously known as Zfp206) is a 14 zinc finger transcription factor (ZF-TF) of the C2H2 ZF-TF subfamily with a N-terminal SCAN domain. Zscan10 had been attributed a role as a pluripotency factor in embryonic stem cells based on its interaction with Oct4 and Sox2 in in vitro assays. To obtain better insights into the potential roles of Zscan10 mice containing a mutation in the Zscan10...read more

NSun2 – mechanistic explanation for human phenotype

04. December 2014

Several genetic mutations in the NSUN2 gene have been identified to cause a syndromic form of intellectual disability and a Dubowitz-like syndrome in humans. The NSUN2 gene carries a homozygous mutation that leads to the loss of the NSun2 protein. Besides intellectual disability, the patients show further symptoms of neurological abnormalities such as microcephaly, behavioural deficits, speech...read more

New Insights into the Role of Calcitonin in Bone Formation

05. November 2014

Calcitonin (CT) is known to inhibit bone resorption. Scientists at Helmholtz Zentrum München, in cooperation with colleagues from the University Hospital Hamburg-Eppendorf, have now discovered that inactivation of the calcitonin receptor can lead to increased bone formation. In terms of translational research this could represent a new approach for the treatment of osteoporosis.The scientists...read more

Cardiac variation in different strains

12. June 2014

In the last decade genetic diversity within inbred mouse strains was often recognized. However, the need for comparability and standardization of cardiac phenotyping methods is strong. Furthermore large scale analyses of mutants need standardized high-throughput methods to be able to discriminate healthy from ill. The scientists around Kristin Moreth from the Insitute of Experimental Genetics in...read more

Meis1 – new insights into restless legs syndrome

21. March 2014

The restless legs syndrome (RLS) is a neurological disorder which is characterized by an urge to move the legs and uncomfortable sensations in the lower limbs. The symptoms occur only during rest but moving the affected body part provides temporary relief. Patients are therefore forced to stand up and walk, sometimes calling themselves “nightwalkers”. Consequences are severe sleep disturbances,...read more

Influence of genetic background in hepatosteatosis

14. March 2014

A number of studies carried out over the recent years in populations with different ethnic backgrounds outline a role for genetic factors in the progression of benign non-alcoholic fatty liver disease (NAFLD) to non-alcoholic hepatosteatitis (NASH). However, the role of environmental factors, such as an increase in dietary fat intake, in the development of steatosis, inflammation, fibrosis,...read more

Accurate Huntington’s disease model reveals early phenotypes

14. February 2014

Huntington’s disease (HD) is an autosomal dominantly inherited neurodegenerative disorder characterized by abnormal voluntary and involuntary movements, cognitive impairment and psychiatric disturbances, weight loss and cardiac failure. Onset typically occurs in mid-life. Currently there is no effective disease-modifying therapy and the disease relentlessly leads to death after ~10-15 years. HD...read more

Jak1 – A model for systemic lupus erythematosus?

12. December 2013

Within the Munich ENU Mutagenesis Project, MEP (project leader Sibylle Sabrautzki) Helmholtz Zentrum München, scientists from the Institute of Experimental Genetics and German Mouse Clinic and colleagues from the Institute of Human Genetics identified a new dominant point mutation in the Jak1 gene (p.Ser645Pro). The mutation affects the conserved serine of the pseudokinase domain and corresponds...read more

Uromodulin – mouse model mimics human phenotype

29. November 2013

Mutant Uromodulin - mouse model mimics human phenotype of Uromodulin-associated kidney diseaseread more

Rapamycin – low anti-aging effect

14. November 2013

The recent reports of lifespan extension in mice treated with the FDA-approved mammalian TOR (mTOR) inhibitor rapamycin confirms the previous demonstration of pharmacological extension of maximal lifespan in mammals. But extension of lifespan does not necessarily indicate effects on aging; lifespan extension could be caused by isolated suppression of specific life-limiting pathologies, such as...read more

SMC6 – A link between DNA repair and glucose metabolism?

30. April 2013

Smc5-6 is a highly conserved protein complex related to cohesin and condensin involved in the structural maintenance of chromosomes. In yeasts the Smc5-6 complex is essential for proliferation and is involved in DNA repair and homologous recombination. In order to address the function of the Smc5-6 complex more definitively and to determine its functions in mammals Limei Ju, Jonathan Wing and...read more

Eps15 – a regulator of B-cell lymphopoeisis

14. February 2013

Eps15 is an endocytic adaptor protein involved in clathrin and non-clathrin mediated endocytosis. In Caenorhabditis elegans and Drosophila melanogaster lack of Eps15 leads to defects in synaptic vesicle recycling and synapse formation (synapse formation only in Drosophila). The scientists around Benedetta Pozzi from the IFOM Fondazione Instituto FIRC di Oncologica Moleculare in Milan, Italy,...read more

Ifitm1 – unique function to be determined?

13. December 2012

For the Interferon induced transmembrane protein 1 (Ifitm1, fragilis2, mil-2, 9-27, Leu-13), a 17kDa protein, several putative functions have been suggested. These were either based on indirect experimental evidence or inferred from sequence or gene expression data. Among these is the idea of Ifitm1 as being regulated during an antitumoral, antiviral or antibacterial immune response. Several...read more

Enamelin – A regulator of energy homeostasis?

22. November 2012

Enamelin is the largest and least abundant of the three secretory calcium-binding phosphoproteins (enamelin, amelogenin and ameloblastin) and represents about 5% of the total proteins in developing enamel. To date, the enamelin gene (Enam) has commonly been considered as a tooth-specific gene expressed by the enamel organ and (at a low level) by odontoblasts. In the present study Helmut Fuchs and...read more

Abcb4 – A modulator of glucose homeostasis?

16. November 2012

The glucose metabolism is regulated by various factors and influences. It depends – among other regulatory influences – on the production of bile. Bile is composed mainly of water, sterols, bile salts, and phospholipids, in particular, phosphatidylcholine (PC). These substances, apart from water, are transported from hepatocytes into bile by specific hepatobiliary ATP-binding cassette (ABC)...read more

Cln3 – A novel key to juvenile neuronal lipofuscinosis?

04. October 2012

Juvenile neuronal lipofuscinosis (JNCL) is an autosomal recessive disease in children involving seizures, visual, motor and cognitive decline, and premature death. It is caused by mutations in the CLN3 gene. Although gene function is not fully clear yet it is believed that CLN3, a primarily endosomal-lysosomal protein in mammalian cells, plays a major role in post-Golgi, endocytic, autophagic and...read more

Prdm5 – Novel role in bone development and Collagen I...

CT of a mouse 11. July 2012

PRDM family members are transcriptional regulators involved in tissue specific differentiation. PRDM5 has been reported to predominantly repress transcription, but a characterization of its molecular functions in a relevant biological context is lacking.Bone is composed of a highly specialized, mineralized collagenous matrix that provides tensile strength to the skeletal system. Collagen I is...read more

COX4i2 – oxidative phosphorylation as target for the treatment...

04. July 2012

Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial electron transport chain. The recently discovered subunit of COX, cytochrome c oxidase subunit 4 isoform 2 (COX4i2), is specifically expressed in lung and trachea. To study the role of the subunit in lung function, Maik Hüttemann and his colleagues from the Center for Molecular Medicine and Genetics at the Wayne State...read more

UBB+1 - impaired respiratory function in Alzheimer's disease?

04. July 2012

Systematic phenotyping of genetically modified animals is an essential aspect of analyzing pleiotropic effects of genes. Irmler et al. use such a screen in a reporter mouse line for impaired protein quality control associated with Alzheimer’s disease. Unexpected respiratory dysfunction was found that apparently is mediated by mouse brainstem nuclei where a dysfunctional ubiquitin protein (UBB+1)...read more

Aga2 – Additional primary phenotypes in Osteogenesis imperfecta

29. June 2012

Brittle bones, fractures and osteoporosis are symptoms of Osteogenesis imperfecta (OI), a group of inherited connective tissue disorders. Most OI cases are caused by autosomal dominant mutations in COL1A1 or COL1A2, which encode the chains of type I collagen, the most abundant protein of the extracellular matrix (ECM) of bone. Although skeletal findings are predominant, OI is a generalized...read more

Nbea – a novel gene regulating body weight and BMI

14. June 2012

The control of body mass and energy balance in the body is very complex. Recent research suggests hundreds of genes to be involved in the regulation and thus in the development of obesity. As yet only a small percentage of them have been identified. It is believed that ligand-receptor interaction is a key mechanism underlying the dysregulation of body mass. Novel studies in mice and humans...read more

Infrafrontier Memorandum of Understanding signed by five...

09. May 2012

With the signatures of Czech Republic last week and France this week, the Infrafrontier Memorandum of Understanding has now been signed by five European member states. The document had already been signed by Germany, Greece and Finland.In the Memorandum of Understanding, the signatories express their intent to implement the pan-European Infrafrontier Research Infrastructure. This includes the...read more

Sip1 – novel mechanism regulating pain perception

18. January 2012

Harmful events that can result in tissue injury are noxious for an organism. To evade such events the perception of pain is an extremely important function of the body. The transduction of noxious stimuli is warranted through specialized ion channels and receptors expressed by primary nociceptive neurons. The molecular mechanisms regulating the relevant genes and ion channels for pain processing...read more

EuroMouse meeting 2012 - Joint Infrafrontier / EUMODIC Symposium

22. December 2011

The aim of this symposium is to bring closer together the mouse genetics and the clinical and translational communities and to promote the use of mouse models in clinical and translational research.The symposium will take place from 17-19 January, 2012 in the Hilton Munich City Hotel in central Munich, Germany.Speaker Line-up: Prof. Philip Avner, Institut Pasteur Paris Dr. Martin Balastik,...read more

How does diet influence the response to particulate air...

11. November 2011

Obesity and its common sequelae such as type II diabetes and cardio vascular diseases are a worldwide increasing health risk factor. The underlying physiological pathways and their genetic causes interacting with environmental factors still require substantial research efforts. Importantly, not only direct effects of increased adiposity e.g. on the sceleto-muscular system or insulin function...read more

Plk1 – precise cancer treatment with minimal side effects?

26. July 2011

Anti-mitotic drugs that inhibit microtubule dynamics have been effective in the treatment of cancer. Despite their proven clinical success, their effectiveness is limited by two critical aspects: resistance and toxicity (mainly myelosuppression and neuropathies). In efforts to avoid adverse side effects, small molecule inhibitors were developed to target the critical regulators of mitosis, such...read more

ADAR2 mediated RNA editing for hearing and sensorimotor gating

09. June 2011

ADAR2, short for adenosine deaminases acting on RNA, is an RNA editing enzyme that converts specific adenosines to inosines (A-to-I) in certain pre-mRNAs. A-to-I editing leads frequently to amino acid substitutions in the encoded proteins. ADAR2 has been best characterized as selective editing enzyme, in the nervous system.In addition, recent studies identified non-coding RNAs such as miRNAs as...read more

Ali14 – a mouse model for inflammatory diseases in humans?

30. May 2011

Inflammatory arthritis is a multifactorial disease that is induced by complex combinations of genetic and environmental influences. Thus, characterization of a single factor triggering spontaneous inflammation is a major challenge in the field. Despite the accumulated evidence regarding systemic inflammatory diseases, only treatments targeting symptoms are available.In a large-scale...read more

MIM – can dilated intracellular spaces lead to cancer?

15. April 2011

Missing-in-metastasis (MIM/MTSS1) is a tissue-specific regulator of actin and plasma membrane dynamics, whose altered expression levels have been linked to metastatic behavior of various cancers. To elucidate the physiological role of the protein Pieta K. Mattila, Juha Saarikangas and collegues generated MIM-deficient mice. The analysis revealed that MIM is dispensable for embryonic development....read more

Phenotyping training course in the GMC

16. February 2011

International scientists improve skills in techniques for mouse phenotyping.read more

The European Mouse Disease Clinic: EUMODIC Annual General Meeting

20. January 2011

2nd-3rd March, BarcelonaRead more at: http://www.eumodic.org/read more

NOX4 – A novel target for stroke therapy?

21. September 2010

The enzyme NOX4 is responsible for the death of nerve cells following a stroke in mice. It produces hydrogen peroxide – a molecule that acts destructive in the body, if its concentrations are pathologically elevated. This discovery was made by researchers Harald Schmidt from Maastricht Uuniversity, Christoph Kleinschnitz from the University of Würzburg and their co-workers as well as from the...read more

Urocortin 3 – Improvement of social memory in knockout mice

07. July 2010

The neuropeptide corticotropin-releasing hormone (CRH), as well as its relatives urocortin 1, 2 and 3, are the key factors regulating hormonal and behavioural reaction to stress. Among other things, they act as neuromodulators within the brain and, by binding to CRH receptors, mediate the neuronal communication between different brain regions controlling behaviour. Malfunction of CRH or CRH...read more

CIN85 – A mouse model for ADHD?

15. June 2010

Adaptor molecules are non-catalytic polypeptides that contain one or more domains able to bind to other protein or non-protein ligands. These molecules selectively control the spatial and temporal assembly of multiprotein complexes that transmit intracellular signals involved in regulation of cell growth, differentiation, migration and survival. Cbl-interacting protein of 85 kDa (CIN85) is such a...read more

Eps8 – eat normal, stay thinner, live longer

02. March 2010

Obesity is associated with an increased risk of numerous sequelae, such as type 2 diabetes, hypertension and cardiovascular diseases, collectively referred to as the metabolic syndrome, and cancer. The adipose tissue, far from only being a passive reservoir for the accumulation of lipids, is an endocrine organ that produces dozens of factors important for organism homeostasis. Excess adipose...read more

Eyeless – Parkinson disease model without eyes?

22. December 2009

Parkinson’s disease (PD) is a degenerative disorder of the central nervous system. It is characterized by the loss of the dopamine producing (dopaminergic) neurons in the Substantia nigra, a dark coloured structure in the midbrain. The pigment melanin, which is also produced in dopaminergic neurons, is responsible for the dark colour of the Substantia nigra. While PD progresses, the Substantia...read more

Uromodulin – Renal dysfunction and the consequences

19. August 2009

Uromodulin is a glycoprotein that is encoded by the UMOD gene in humans. Uromodulin is supposed to protect from urinary tract infections and the formation of kidney stones. It is the most abundant protein in mammalian urine and is synthesized exclusively and abundantly in the cells of the thick ascending limb of Henle’s loop (TALH). The main function of Henle’s loop is to create hyperosmotic...read more

Mct8 – Effect of thyroid hormone on the brains of mice and men

29. July 2009

Thyroid hormones are essential for embryonic development as well as for energy metabolism. Sufficient supply with maternal thyroid hormones especially during embryonic development and shortly after birth is indispensable for proper brain development and maturation. Even a transient shortage of thyroid hormone can have severe consequences as impaired hearing, intelligence or motor coordination....read more

Delta-like1 haploinsufficiency – Smaller, lighter, weaker?

29. June 2009

Delta-like 1 (Dll1) is a ligand of Notch receptor proteins. The Notch signalling pathway is an intercellular signalling mechanism that is highly conserved during evolution of vertebrates. It is involved in the determination of cell fates in different cell types during embryonic development. Notch signalling has many diverse roles in physiology and pathology, as can be seen when a loss- or...read more

Mouse Model Provides Clues to Human Language Development

24. June 2009

Scientists of the German Mouse Clinic at Helmholtz Zentrum München have made a major contribution to understanding human language development. Using a comprehensive screening method, they studied a mouse model carrying a “humanized version” of a key gene associated with human language.In the brains of the mice the researchers found alterations which may be closely linked to speech and...read more

Foxp2 – Speech and language in mice and men

29. May 2009

The human FOXP2 gene is known to be important for the acquisition of speech and language as well as in speech and language disorders. Analyses of the evolution of the FOXP2 gene in primates identified two amino acid substitutions, which became fixed on the human lineage after its separation from the chimpanzee and which appear to have been subject to positive selection, probably due to effects on...read more

Npal3 – Immune deficiency in Prader-Willi?

13. May 2009

The non-imprinted in Prader-Willi/Angelman syndrome (NIPA) genes encode for highly conserved receptor or transporter proteins and are involved in the development of the Prader-Willi Syndrome and the hereditary spastic paraplegia. The Prader-Willi Syndrome is a genetic disorder characterized by the failure to grow and gain weight during infancy, feeding problems, short stature, low muscle tone,...read more

Mouse Model for Progressive Hearing Loss

12. April 2009

Scientists of Helmholtz Zentrum München have developed a new mouse model that can be associated with deafness. With this model they succeeded for the first time in showing that microRNA, a new class of genes, influences hearing loss. The respective microRNA seed region influences the production of sensory hair cells in the inner ear, both in the mouse and in humans. The findings have been...read more

Eya3 – Curious but lazy?

22. December 2008

In Drosophila, mutations in the gene eyes absent (eya) lead to severe defects in eye development. The functions of its mammalian orthologs Eya1-4 are only partially understood so far. In humans EYA1 haploinsufficiency is responsible for branchio-otorenal (BOR) syndrome or branchio-oto (BO) syndrome. BOR is an autosomal dominant disorder characterized by branchial cysts, ear malformations, hearing...read more

Tim23 – are mitochondria the key to aging processes?

09. December 2008

Mitochondria are intracellular organelles of eukayotic cells. One of their main tasks is the generation of the cell's supply of chemical energy for metabolic processes. In addition to supplying cellular energy, mitochondria are involved in a range of other essential metabolic processes of cells. Within all organelles mitochondria are special: a mitochondrion has its own independent genome....read more