Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency
نویسندگان
چکیده
منابع مشابه
Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression
Complex I (CI) is the largest of the five multi-subunit complexes constituting the human oxidative phosphorylation (OXPHOS) system. Seven of its catalytic core subunits are encoded by mitochondrial DNA (ND (NADH dehydrogenase)1-6, ND4L (NADH dehydrogenase subunit 4L)), with mutations in all seven having been reported in association with isolated CI deficiency. We investigated two unrelated adul...
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An infant presented with fatal infantile lactic acidosis and cardiomyopathy, and was found to have profoundly decreased activity of respiratory chain complex I in muscle, heart and liver. Exome sequencing revealed compound heterozygous mutations in NDUFB10, which encodes an accessory subunit located within the PD part of complex I. One mutation resulted in a premature stop codon and absent prot...
متن کاملDifferences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency.
NADH-ubiquinone oxidoreductase (complex I) deficiency is amongst the most encountered defects of the mitochondrial oxidative phosphorylation (OXPHOS) system and is associated with a wide variety of clinical signs and symptoms. Mutations in complex I nuclear structural genes are the most common cause of isolated complex I enzyme deficiencies. The cell biological consequences of such mutations ar...
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multiple sclerosis (ms) is a demyelinating disease of the central nervous system characterized by morphological hallmarks of inflammation, demyelination and axonal loss. to date, little attention has been paid to the contribution of mitochondrial respiratory chain enzyme activities to ms. in this study, kinetic analysis of mitochondrial respiratory chain complex i enzyme (measured as nadh ferri...
متن کاملMitochondrial network complexity and pathological decrease in complex I activity are tightly correlated in isolated human complex I deficiency.
Complex I (NADH:ubiquinone oxidoreductase) is the largest multisubunit assembly of the oxidative phosphorylation system, and its malfunction is associated with a wide variety of clinical syndromes ranging from highly progressive, often early lethal, encephalopathies to neurodegenerative disorders in adult life. The changes in mitochondrial structure and function that are at the basis of the cli...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2016
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2016.05.022