Biochemical diagnosis of mitochondrial 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 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.
متن کاملMitochondrial disorders: Challenges in diagnosis & treatment
Mitochondrial dysfunctions are known to be responsible for a number of heterogenous clinical presentations with multi-systemic involvement. Impaired oxidative phosphorylation leading to a decrease in cellular energy (ATP) production is the most important cause underlying these disorders. Despite significant progress made in the field of mitochondrial medicine during the last two decades, the mo...
متن کاملBiochemical and Molecular Methods for the Study of Mitochondrial Disorders
Mitochondrial disorders are a group of genetically heterogeneous complex diseases [1–6]. Although mitochondrial structure and function involve two genomes, the biogenesis of mitochondrion and more than 99 % of its protein contents are encoded by the nuclear genome [7]. As a result, the majority of the mitochondrial disorders are caused by molecular defects in the nuclear genome [5, 6, 8–10]. Ea...
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 کاملذخیره 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: Journal of Inherited Metabolic Disease
سال: 2010
ISSN: 0141-8955,1573-2665
DOI: 10.1007/s10545-010-9081-y