Mitochondrial DNA Genetics and the Heteroplasmy Conundrum in Evolution and Disease

被引：445

作者：

Wallace, Douglas C. ^{[1
]}

Chalkia, Dimitra ^{[1
]}

机构：

[1] Univ Penn, Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Ctr Mitochondrial & Epigen Med, Philadelphia, PA 19104 USA

来源：

COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY | 2013年 / 5卷 / 11期

基金：

美国国家卫生研究院;

关键词：

HEREDITARY OPTIC NEUROPATHY; BASAL METABOLIC-RATE; CHLORAMPHENICOL RESISTANCE; MITOTIC SEGREGATION; ADAPTIVE SELECTION; RAPID SEGREGATION; CYTOPLASMIC DETERMINANTS; SEQUENCE VARIANT; PATHOGENIC MTDNA; MAMMALIAN-CELLS;

D O I：

10.1101/cshperspect.a021220

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

The unorthodox genetics of the mtDNA is providing new perspectives on the etiology of the common "complex" diseases. The maternally inherited mtDNA codes for essential energy genes, is present in thousands of copies per cell, and has a very high mutation rate. New mtDNA mutations arise among thousands of other mtDNAs. The mechanisms by which these "heteroplasmic" mtDNA mutations come to predominate in the female germline and somatic tissues is poorly understood, but essential for understanding the clinical variability of a range of diseases. Maternal inheritance and heteroplasmy also pose major challengers for the diagnosis and prevention of mtDNA disease.

引用

页数：47

共 175 条

[1]

[Anonymous], 1969, EVOLUTION GENETICS P

[2] RAPID SEGREGATION OF HETEROPLASMIC BOVINE MITOCHONDRIA [J].