A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies
نویسندگان
چکیده
منابع مشابه
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies
Mitochondrial disorders have the highest incidence among congenital metabolic disorders characterized by biochemical respiratory chain complex deficiencies. It occurs at a rate of 1 in 5,000 births, and has phenotypic and genetic heterogeneity. Mutations in about 1,500 nuclear encoded mitochondrial proteins may cause mitochondrial dysfunction of energy production and mitochondrial disorders. Mo...
متن کاملMitochondrial myopathies: deficiencies localized to complex I and complex III of the mitochondrial respiratory chain.
Deficiencies of the mitochondrial respiratory chain or the phosphorylation system are becoming increasingly recognized causes of myopathy and multisystem disease in man. In biochemical terms, the ones most clearly defined have been associated with impaired activities of NADH : ubiquinone reductase (Morgan-Hughes el al., 1979, 1984; Land et al., 1981; Moreadith etal., 1984), ubiquino1:cytochrome...
متن کاملUse of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
IMPORTANCE Mitochondrial disorders have emerged as a common cause of inherited disease, but their diagnosis remains challenging. Multiple respiratory chain complex defects are particularly difficult to diagnose at the molecular level because of the massive number of nuclear genes potentially involved in intramitochondrial protein synthesis, with many not yet linked to human disease. OBJECTIVE...
متن کاملGenetic features of mitochondrial respiratory chain disorders.
Oxidative phosphorylation, i.e., ATP synthesis by the oxygen-consuming respiratory chain (RC), supplies most organs and tissues with a readily usable energy source, being functional before birth. Consequently, RC deficiencies can theoretically give rise to any symptom, in any organ or tissue, at any age and with any mode of inheritance, because of the twofold genetic origin of RC components (nu...
متن کاملa swot analysis of the english program of a bilingual school in iran
با توجه به جایگاه زبان انگلیسی به عنوان زبانی بین المللی و با در نظر گرفتن این واقعیت که دولت ها و مسئولان آموزش و پرورش در سراسر جهان در حال حاضر احساس نیاز به ایجاد موقعیتی برای کودکان جهت یاد گیری زبان انگلیسی درسنین پایین در مدارس دو زبانه می کنند، تحقیق حاضر با استفاده از مدل swot (قوت ها، ضعف ها، فرصتها و تهدیدها) سعی در ارزیابی مدرسه ای دو زبانه در ایران را دارد. جهت انجام این تحقیق در م...
15 صفحه اولذخیره 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: PLOS Genetics
سال: 2016
ISSN: 1553-7404
DOI: 10.1371/journal.pgen.1005679