Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders
نویسندگان
چکیده
منابع مشابه
Biochemical 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...
متن کاملBiochemical and molecular aspects of human mitochondrial respiratory chain disorders.
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 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 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...
متن کاملmitochondrial disorders and diagnosis
mitochondrial generate cellular energy in the form of atp (adenosine triphosphate) by the process of oxidative phosphorylation (oxphos). most cells contain hundreds of mitochondrial.
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ژورنال
عنوان ژورنال: Biochimica et Biophysica Acta (BBA) - Bioenergetics
سال: 2004
ISSN: 0005-2728
DOI: 10.1016/j.bbabio.2004.08.006