Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT
نویسندگان
چکیده
منابع مشابه
MFN2 mutations cause compensatory mitochondrial DNA proliferation
1 Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK 2 Department of Ophthalmology, Royal Victoria Infirmary, Newcastle upon Tyne, NE1 4LP, UK 3 IfADo – Leibniz Research Centre for Working Environment and Human Factors, Dortmund, Germany 4 Friedrich-Baur Institute, Ludwig Maximilian University, Munich, Germany ...
متن کاملMutations in noncoding regions of GJB1 are a major cause of X-linked CMT
OBJECTIVE To determine the prevalence and clinical and genetic characteristics of patients with X-linked Charcot-Marie-Tooth disease (CMT) due to mutations in noncoding regions of the gap junction β-1 gene (GJB1). METHODS Mutations were identified by bidirectional Sanger sequence analysis of the 595 bases of the upstream promoter region, and 25 bases of the 3' untranslated region (UTR) sequen...
متن کاملComplementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations
Mfn2, an oligomeric mitochondrial protein important for mitochondrial fusion, is mutated in Charcot-Marie-Tooth disease (CMT) type 2A, a peripheral neuropathy characterized by axonal degeneration. In addition to homooligomeric complexes, Mfn2 also associates with Mfn1, but the functional significance of such heterooligomeric complexes is unknown. Also unknown is why Mfn2 mutations in CMT2A lead...
متن کاملCMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca2+ entry-stimulated respiration
GDAP1 is an outer mitochondrial membrane protein involved in Charcot-Marie-Tooth (CMT) disease. Lack of GDAP1 gives rise to altered mitochondrial networks and endoplasmic reticulum (ER)-mitochondrial interactions resulting in a decreased ER-Ca2+ levels along with a defect on store-operated calcium entry (SOCE) related to a misallocation of mitochondria to subplasmalemmal sites. The defect on SO...
متن کاملLETTER TO THE EDITOR MFN2 mutations cause compensatory mitochondrial DNA proliferation
1 Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK 2 Department of Ophthalmology, Royal Victoria Infirmary, Newcastle upon Tyne, NE1 4LP, UK 3 IfADo – Leibniz Research Centre for Working Environment and Human Factors, Dortmund, Germany 4 Friedrich-Baur Institute, Ludwig Maximilian University, Munich, Germany ...
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ژورنال
عنوان ژورنال: Neurology
سال: 2011
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0b013e318217e77d