Multilevel heterogeneity of mitochondrial respiratory chain deficiency
نویسندگان
چکیده
منابع مشابه
Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.
Starting from a cohort of 50 NADH-oxidoreductase (complex I) deficient patients, we carried out the systematic sequence analysis of all mitochondrially encoded complex I subunits (ND1 to ND6 and ND4L) in affected tissues. This approach yielded the unexpectedly high rate of 20% mutation identification in our series. Recurrent heteroplasmic mutations included two hitherto unreported (T10158C and ...
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s since January 1975, a full-text search capacity, and a personal archive for saving articles and search results of interest. All articles can be printed in a format that is virtually identical to that of the typeset pages. Beginning six months after publication the full text of all original articles and special articles is available free to nonsubscribers who have completed a brief registratio...
متن کاملThe mitochondrial respiratory chain.
In the present chapter, the structures and mechanisms of the major components of mammalian mitochondrial respiratory chains are reviewed. Particular emphasis is placed on the four protein complexes and their cofactors that catalyse the electron transfer pathway between oxidation of NADH and succinate and the reduction of oxygen to water. Current ideas are reviewed of how these electron transfer...
متن کاملThe Aerobic Mitochondrial Respiratory Chain
INTRODUCTION Fumarate reductase (FRD) catalyses the reduction of fumarate to succinate and is a key enzyme for the anaerobic functioning of many organisms respiring with fumarate as terminal electron acceptor. The ability to reduce fumarate is a common property among Gram-negative bacteria and some facultative anaerobic Gram-positive bacteria. The reduction of fumarate is also important in the ...
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...
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ژورنال
عنوان ژورنال: The Journal of Pathology
سال: 2018
ISSN: 0022-3417
DOI: 10.1002/path.5146