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DHX9 - New candidate gene for neurodevelopmental disorders and Charcot-Marie-Tooth disease

A team of scientists at the Baylor College of Medicine, the Chinese University of Hong Kong, the German Mouse Clinic and collaborating institutions analyzed the genes of patients with undiagnosed neurodevelopmental disorders (NDDs) ranging from severe to mild and conducted family studies to detect genetic mutations related to their condition. The researchers discovered that the patients had...
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AOX delays the onset of symptoms in Uqcrh KO mouse, a model of complex III disease.

Mitochondrial diseases are rare and complex genetic disorders that impair energy production, often leading to deficiencies in the oxidative chain. Respiratory chain complex III (CIII) deficiencies primarily manifest in the childhood and the affected patients develop diverse clinical symptoms. In the present study, recently published in BBA – Molecular Basis of Disease, the research team of the...
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SERF2 - a new player contributing to amyloid pathology in the brain?

Currently more than 55 million people have dementia worldwide and every year there are nearly 10 million new cases. Dementia is currently the seventh leading cause of death and one of the major causes of disability and dependency among older people globally. Alzheimer disease is the most common form of dementia and may contribute to 60–70% of cases. In age-related neurodegenerative diseases, like...
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Knockout mice are an important tool for human monogenic heart disease studies

Monogenic diseases are individually rare but collectively quite common, posing a huge burden on families and society. Monogenic cardio vascular diseases encompass a wide range of phenotypes that result in coronary artery disease, heart failure, aortic dissection and malignant ventricular arrhythmias. In this new study, scientists from the German Mouse Clinic at Helmholtz Munich and colleagues...
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Longevity treatments do not slow aging

Three approaches with a reputation for slowing aging processes have proven largely ineffective. For their study, researchers developed a new method to measure aging, which accounts for the complexity of aging in organisms.   In a new study, researchers have taken a close look at three treatment approaches that have been widely believed to slow the aging process. However, when tested in mice,...
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Novel neurodevelopment syndrome caused by RABGAP1 deficiency

There are no known Mendelian diseases caused by variants in RABGAP1 yet. Clinicians and Scientists either caring for patients with rare homozygous genetic variances in the gene RABGAP1 or working on the KO mouse model teamed up to find the link from the gene function to the patient’s symptoms. The study led by the Hospital of Sick Children in Canada and supported by colleagues from University of...
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New mouse model for interventional obesity research

Suitable animal models are essential for translational research, especially in the case of complex, multifactorial conditions, such as obesity. In this study, scientists of the Research Group Epigenetics, Metabolism and Longevity, Dummerstorf and the German Mouse Clinic, Helmholtz Zentrum München, characterized the geno- and phenotypes of the mouse line Titan and tested its suitability as an...
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New candidate genes for congenital heart defects

A heart defect is the most common congenital malformation, every 100th child is born with it. These genetic disorders include subsets of inherited arrhythmias, cardiomyopathies, vascular diseases and/or structural heart defects with heterogeneous clinical presentations, variable penetrance and expression, making identification of the disease-causing genes challenging. In a global effort,...
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Uqcrh – a new player in mitochondrial complex III disorders

This translational study recently published in EMBO Molecular Medicine sheds light on the UQCRH gene and mitochondrial complex III diseases. An international team led by researchers and clinicians from Helmholtz Zentrum München, Germany, Manchester Centre for Genomic Medicine, UK, Newcastle University, UK and University Hospital Salzburg, Austria, identified two cousins with a deletion in the...
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Insights into the genesis of migraine

In this current study scientists teamed up to unraveled the mechanistic cascade underlying cortical spreading depression (CSD) and migraine susceptibility exemplified in a mouse model of  familial hemiplegic migraine type 3 (FHM3). The results were recently published in the Journal of Clinical Investigation. With a prevalence of 10-15 % in the general population migraine is one of the most common...
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Influenza during pregnancy increases the susceptibility to infection in offspring

In the recent study scientists of the Heinrich-Pette-Institute, Hamburg, and the University of Veterinary Medicine Hannover together with colleagues from the Imperial College London, the Helmholtz Zentrum München and the Research Center Borstel have employed a new animal model to investigate whether offspring of influenza A virus-infected mothers are more susceptible to other infections later in...
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GMC EQIPD certified

The German Mouse Clinic (GMC) has implemented the EQIPD (Enhancing Quality In Preclinical Data) Quality System in addition to a well-established ISO 9001 Quality Management System (QMS) (certified since 2014). Assessment by members of an EQIPD working group revealed compliance of the QMS at the GMC with the EQIPD standards and requirements leading to the certification in June 2021.   Poor-quality...
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Whole‑body Wdr45 knock‑out mouse: Systemic view on the rare neurological disorder BPAN

In this recent study, scientists from the Helmholtz Center Munich generated and extensively characterized a new mouse model for the rare neurological disorder Beta-Propeller Protein Associated Neurodegeneration (BPAN). The WDR45 (WD Repeat Domain 45) gene encodes a beta-propeller scaffold protein with a putative role in autophagy, and several pathogenic variants are the genetic cause of this...
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Central role of Creld1 in mammalian heart development and function

Scientists from the University of Bonn in collaboration with colleagues from Radboud University, Nijmegen and the German Mouse Clinic showed, that Creld1, the first single gene linked to atrioventricular septal defects (AVSD) of newborn, regulates myocardial development and function in mice. Missense mutations of CRELD1 (Cysteine-Rich with EGF-Like Domains 1) were found in non-syndromic and in...
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Novel Genes That Influence Bone Mineral Density

Researchers from Helmholtz Zentrum München, together with the International Mouse Phenotyping Consortium (IMPC), have uncovered a large number of novel genes controlling the mineral density of bone. Because bone mineral density (BMD) is low in patients with osteoporosis, these findings help to better understand the underlying molecular mechanisms of the disease. The new insight is important to...
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Increased estrogen to androgen ratio in mice feminize the male immune system

In a common effort, scientists of the German Mouse Clinic and Turku University examined the immune system of genetically modified mice that develop high estrogen levels in males. Applying in vivo and molecular phenotyping approaches, the researchers showed that an imbalanced circulating estrogen to androgen ratio in male mice feminized their immune response. Furthermore, their B cell function was...
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New methyltransferase METTL6 and its role in cancer

Methylations are among the most prevalent RNA modifications and multiple METTL proteins have been implicated in different types of cancers. In a recent publication in Science Advances, a team of researchers from the Helmholtz-Zentrum München and colleagues discovered the impact of the RNA-modifying enzyme METTL6 as a potential new oncogene. DNA and histone modifications control gene expression -...
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Is there an essential physiological role for the oncogenic neuronal inositol-1,4,5-trisphosphate 3-kinase?

Inositol-1,4,5-trisphosphate 3-kinase-A (ITPKA) is the neuronal isoform of ITPKs and exhibits both actin bundling and InsP3kinase activity. In addition to neurons, ITPKA is ectopically expressed in tumor cells, where its oncogenic activity increases tumor cell malignancy. This raise the question, if inhibition of ITPKA could reduce oncogenic activity. However, prior to developing ITPKA specific...
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METTL5 – a new human RNA methyltransferase that is involved in human diseases

An international team of researchers lead by Helmholtz Zentrum München uncovered the molecular mechanisms that link rRNA methylation to development and disease. The study was published “Genes & Development”. Almost all cellular RNAs are covalently modified and these modifications have emerged as a crucial layer in the regulation of RNA biogenesis and functions. The mechanistic understanding how...
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New link between iron deficiency in pancreatic cells and diabetes

The role for iron in the pathogenesis of diabetes is on debate. While the consequences of excess iron in β-cell function and survival are established, the effects of iron deficiency on β-cell function and diabetes risk in humans are not yet fully understood.   In a collaborative effort scientists of the University of Utah and the German Mouse Clinic unraveled a critical role for iron-regulatory...
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Mouse Model mimics the most important features of rare methylmalonic aciduria

In a collaborative effort, scientists from the University of Zurich and the German Mouse Clinic investigated the potential of a new mouse model for the autosomal recessive rare disease methylmalonic aciduria (MMAuria). The results were recently published in BBA – Molecular Basis of Disease.   MMAuria is a rare autosomal recessive inborn error of metabolism caused by deficiency of the...
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News regarding the claudin family member 12 and blood-brain barrier integrity

In a collaborative study, scientists from the University of Bern and the German Mouse Clinic investigated the impact of the claudin family member 12 on the blood-brain barrier function and found out, that it has different roles than forming tight junctions in the cells. The results were recently published in “Fluids and Barriers in the CNS”. The blood–brain barrier (BBB) ensures central nervous...
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New rationale for NOX4/5 inhibitors for neuroprotective strategy after stroke

Ischemic stroke is a predominant cause of disability worldwide. The thrombolytic or mechanical occlusion has to be removed immediately to supply the brain with blood again. However, the reperfusion bears the risk of an acute deleterious calcium-dependent breakdown of the blood-brain barrier (BBB). The reason for the increase of calcium in the blood was unknown so far. In a collaborative effort,...
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Novel finding: Mutation in the X-linked Ftsj1 gene caused not only intellectual disability in mice and men, but affects also additional organ systems

Intellectual disability (ID) is a major developmental disorder and currently it was estimated to affect around 1% of the population at average. The disease is defined by significant limitations in intellectual performance and a reduction of conceptual, social and practical skills with an onset before the age of 18. Mutations in the mammalian X chromosomal tRNA 2’-O-methyltransferase FTSJ1 cause ID...
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Sea squirt alternative oxidase prevents lethal mitochondrial cardiomyopathy in a mouse model of GRACILE syndrome

Scientists from the Folkhälsan Research Center in Helsinki, Finland, the German Mouse Clinic and colleagues from Sweden investigated, whether the activity of the alternative oxidase of Ciona intestinalis (AOX) can bypass the OXPHOS defect and ameliorates the disease manifestations in a genetic mouse model of CIII deficiency. The results of the extensive study was published recently in EMBO...
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Cataract causing mutations in the betaB2 crystallin led to schizophrenia phenotypes in mice

The beta crystallin gene (CRYBB2) is an ocular structural gene and mutation in this gene can cause cataract. Interestingly, beyond its role in the eye lens it is also associated with neuropsychiatric disorders, but how this gene may contribute to the symptoms of these disorders was unknown. Scientists of the German Mouse Clinic and colleagues performed a comprehensive analysis of the behavioral...
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Zika virus infection: New insights into the impact of the Zika epidemic on the next generation

Scientists from the Heinrich-Pette-Institute Hamburg and the University of Veterinary Medicine Hannover in collaboration with the German Mouse Clinic and several other institutes showed in this study that maternal Zika virus (ZIKV) infection during early development also affects the supposedly healthy offspring at later age. The findings were recently published in ´Nature Microbiology´. In 2015,...
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Common environmental enrichment devices for laboratory mice did not compromise data validity or comparability

To unravel whether environmental enrichment leads to a higher variation of results, scientists of the Helmholtz Zentrum München investigated the influence of enrichment on the experimental outcome of a multitude of phenotypic tests in mice. The study was recently published in `PLoS Biology `.   Adequate housing of animals is legally requested within the European Union and is required, as this...
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Study unravel intergenerational effects of advanced paternal age on aging traits in offspring mice

Advanced age is a risk factor for many age related disorders, and it may enhance susceptibility for disease in the next generation. The recent joint publication of the DZNE Bonn and the German Mouse Clinic reports a reduced life span and an exacerbated development of aging traits in old father offspring compared to young father offspring. The scientists assessed two groups of mice that included...
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Identification of genetic elements in metabolism by high throughput mouse phenotyping

Scientists have identified a network of genes that could play an important role in the development of metabolic diseases such as diabetes. The German Mouse Clinic, collaboration partners within the Helmholtz Center Munich and the International Mouse Phenotyping Consortium (IMPC) led the work that is published in 'Nature Communications'. The development of metabolic diseases like diabetes is a...
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Female mice lacking Pald1 exhibit endothelial cell apoptosis and emphysema

Paladin or Pald1 is a phosphatase-domain containing protein and was identified in two independent screens for novel regulators of angiogenesis and vascular function. In a collaboration with colleagues in Sweden, the German Mouse Clinic characterized the new Pald1−/− mouse model performing behavioral, physiological and biochemical tests. Most of the phenotypes were not altered for Pald1−/− mice,...
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