Genetic defects causing mitochondrial respiratory chain disorders and disease
نویسندگان
چکیده
منابع مشابه
Genetic 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 کاملCardiological manifestations of mitochondrial respiratory chain disorders
Mitochondrial Respiratory Chain Disorders (MRCD) are a heterogeneous group of disorders that share the involvement of the cellular bioenergetic machinery due to molecular defects affecting the mitochondrial oxidative phosphorylation system (OXPHOS). Clinically, they usually involve multiple tissues although they tend to mainly affect nervous system and skeletal muscle. Cardiological manifestati...
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996 19 Katsura, K., Minamisawa. H., Ekholm. A., Folbergrova, J. and Siesjii, H. K. ( 1 992) Hrain Res. 590,6I 2 20 Ekholm. A,, Katsura. K. and Siesjii, H. K. (lOO3) J. Cereb. Hlood Flow Metab. 13, 193-200 21 Kristian, T., Katsura. K., Gid6. G. and Siesjo. H. K. (1904) Hrain Res. 641.295-302 22 Ou-Yang. Y.. Kristian, T., Mellergird. 1’. and Siesjo. H. K. (1994) Hrain Res. 646,hS-72 23 I’umain, R...
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Functional mitochondrial respiratory chain and oxidative phosphorylation systems are obligate requirements for the normal function of most eukaryotic cells. When a defect of one of these systems occurs in humans, it results in a variety of clinical symptoms according to the severity of the defect and the tissues involved. Defects of all five multisubunit complcxes comprising the respiratory cha...
متن کاملBiochemical and molecular diagnosis of mitochondrial respiratory chain disorders.
Biochemical diagnosis of mitochondrial respiratory chain disorders requires caution to avoid misdiagnosis of secondary enzyme defects, and can be improved by the use of conservative diagnostic criteria. Pathogenic mutations causing mitochondrial disorders have now been identified in more than 30 mitochondrial DNA (mtDNA) genes encoding respiratory chain subunits, ribosomal- and t-RNAs. mtDNA mu...
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ژورنال
عنوان ژورنال: Human Reproduction
سال: 2000
ISSN: 0268-1161,1460-2350
DOI: 10.1093/humrep/15.suppl_2.28