C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation
نویسندگان
چکیده
BACKGROUND. Deciphering the function of many genes previously classified as uncharacterized open reading frame (ORF) would complete our understanding a cell’s and its pathophysiology.
منابع مشابه
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.
Mitochondrial Complex IV [cytochrome c oxidase (COX)] deficiency is one of the most common respiratory chain defects in humans. The clinical phenotypes associated with COX deficiency include liver disease, cardiomyopathy and Leigh syndrome, a neurodegenerative disorder characterized by bilateral high signal lesions in the brainstem and basal ganglia. COX deficiency can result from mutations aff...
متن کاملMutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome
The short rib polydactyly syndromes (SRPSs) are a heterogeneous group of autosomal recessive, perinatal lethal skeletal disorders characterized primarily by short, horizontal ribs, short limbs and polydactyly. Mutations in several genes affecting intraflagellar transport (IFT) cause SRPS but they do not account for all cases. Here we identify an additional SRPS gene and further unravel the func...
متن کاملMitofusin2 mutations disrupt axonal mitochondrial positioning and promote axon degeneration.
Alterations in mitochondrial dynamics (fission, fusion, and movement) are implicated in many neurodegenerative diseases, from rare genetic disorders such as Charcot-Marie-Tooth disease, to common conditions including Alzheimer's disease. However, the relationship between altered mitochondrial dynamics and neurodegeneration is incompletely understood. Here we show that disease associated MFN2 pr...
متن کاملb-Tubulin mutations that cause severe neuropathies disrupt axonal transport
Microtubules are fundamental to neuronal morphogenesis and function. Mutations in tubulin, the major constituent of microtubules, result in neuronal diseases. Here, we have analysed b-tubulin mutations that cause neuronal diseases and we have identified mutations that strongly inhibit axonal transport of vesicles and mitochondria. These mutations are in the H12 helix of b-tubulin and change the...
متن کاملβ-Tubulin mutations that cause severe neuropathies disrupt axonal transport.
Microtubules are fundamental to neuronal morphogenesis and function. Mutations in tubulin, the major constituent of microtubules, result in neuronal diseases. Here, we have analysed β-tubulin mutations that cause neuronal diseases and we have identified mutations that strongly inhibit axonal transport of vesicles and mitochondria. These mutations are in the H12 helix of β-tubulin and change the...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 2021
ISSN: ['0021-9738', '1558-8238']
DOI: https://doi.org/10.1172/jci143078