Mitochondrial disorders. A diagnostic challenge in clinical chemistry

被引：15

作者：

Bauer, MF ^{[1
]}

Gempel, K ^{[1
]}

Hofmann, S ^{[1
]}

Jaksch, M ^{[1
]}

Philbrook, C ^{[1
]}

Gerbitz, KD ^{[1
]}

机构：

[1] Acad Hosp Munich Schwabing, Inst Clin Chem Mol Diagnost & Mitochondrial Genet, Diabet Res Grp, D-80804 Munich, Germany

来源：

CLINICAL CHEMISTRY AND LABORATORY MEDICINE | 1999年 / 37卷 / 09期

关键词：

mitochondrial disorders; mtDNA; mutational analysis; fatty acid and amino acid degradation defects; tandem mass spectrometry; diagnostic of mitochondrial diseases;

D O I：

10.1515/CCLM.1999.129

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

Mitochondria play a pivotal role in cellular metabolism and in energy production in particular. Defects in structure or function of mitochondria, mainly involving the oxidative phosphorylation (OXPHOS), mitochondrial biogenesis and other metabolic pathways, have been shown to be associated with a wide spectrum of clinical phenotypes. The ubiquitous nature of mitochondria and their unique genetic features contribute to the clinical, biochemical and genetic heterogeneity of mitochondrial diseases. We will focus on the recent advances in the field of mitochondrial disorders and their consequences for an advanced clinical and genetic diagnostics. In addition, an overview on recently identified genetic defects and their pathogenic molecular mechanisms will be given.

引用

页码：855 / 876

页数：22

共 211 条

[71] Wolfram (DIDMOAD) syndrome and leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes [J].