Molecular genetic aspects of human mitochondrial disorders

被引：389

作者：

Larsson, NG

Clayton, DA

机构：

[1] Department of Developmental Biology, Beckman Ctr. Molec./Genetic Medicine, Stanford Univ. School of Medicine, Stanford

来源：

ANNUAL REVIEW OF GENETICS | 1995年 / 29卷

关键词：

deletion; mutation; myopathy; encephalopathy; organelle;

D O I：

10.1146/annurev.ge.29.120195.001055

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

This review focuses on mutations of mitochondrial DNA (mtDNA) which are an important cause of mitochondrial disorders in humans and are also associated with common neurodegenerative disorders and aging. The high copy number of mtDNA and its maternal transmission make the inheritance of mtDNA mutations fundamentally different from the Mendelian inheritance of nuclear DNA mutations. There is often a mixture of wild-type and mutated mtDNAs (heteroplasmy), and heterogeneity in the distribution of mutated mtDNAs is one plausible explanation for the widely varying phenotypes in patients with mitochondrial disorders. The application of molecular genetics has led to significant progress in the studies of human mitochondrial disorders in the past decade. Future studies including the development of animal models are needed to advance our understanding of the pathogenesis of mitochondrial disorders to enable, in turn, the development of novel therapies and genetic rescue strategies for the treatment of human disease.

引用

页码：151 / 178

页数：28

共 164 条

[11] X-CHROMOSOME-LINKED AND MITOCHONDRIAL GENE-CONTROL OF LEBER HEREDITARY OPTIC NEUROPATHY - EVIDENCE FROM SEGREGATION ANALYSIS FOR DEPENDENCE ON X-CHROMOSOME INACTIVATION [J].

BU, XD ;

ROTTER, JI .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (18) :8198-8202

[12] A MAMMALIAN MITOCHONDRIAL RNA PROCESSING ACTIVITY CONTAINS NUCLEUS-ENCODED RNA [J].

CHANG, DD ;

CLAYTON, DA .

SCIENCE, 1987, 235 (4793) :1178-1184

[13] INVITRO GENETIC TRANSFER OF PROTEIN-SYNTHESIS AND RESPIRATION DEFECTS TO MITOCHONDRIAL DNA-LESS CELLS WITH MYOPATHY-PATIENT MITOCHONDRIA [J].

CHOMYN, A ;

MEOLA, G ;

BRESOLIN, N ;

LAI, ST ;

SCARLATO, G ;

ATTARDI, G .

MOLECULAR AND CELLULAR BIOLOGY, 1991, 11 (04) :2236-2244

[14] MELAS MUTATION IN MTDNA BINDING-SITE FOR TRANSCRIPTION TERMINATION FACTOR CAUSES DEFECTS IN PROTEIN-SYNTHESIS AND IN RESPIRATION BUT NO CHANGE IN LEVELS OF UPSTREAM AND DOWNSTREAM MATURE TRANSCRIPTS [J].

CHOMYN, A ;

MARTINUZZI, A ;

YONEDA, M ;

DAGA, A ;

HURKO, O ;

JOHNS, D ;

LAI, ST ;

NONAKA, I ;

ANGELINI, C ;

ATTARDI, G .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1992, 89 (10) :4221-4225

[15] REFERENCE CHARTS FOR RESPIRATORY-CHAIN ACTIVITIES IN HUMAN TISSUES [J].

CHRETIEN, D ;

RUSTIN, P ;

BOURGERON, T ;

ROTIG, A ;

SAUDUBRAY, JM ;

MUNNICH, A .

CLINICA CHIMICA ACTA, 1994, 228 (01) :53-70

[16]

Clayton D A, 1975, Int Rev Exp Pathol, V14, P1

[17] REPLICATION AND TRANSCRIPTION OF VERTEBRATE MITOCHONDRIAL-DNA [J].

CLAYTON, DA .

ANNUAL REVIEW OF CELL BIOLOGY, 1991, 7 :453-478

[18]

CLAYTON DA, 1984, ANNU REV BIOCHEM, V53, P573

[19] CIRCULAR DIMER AND CATENATE FORMS OF MITOCHONDRIAL DNA IN HUMAN LEUKAEMIC LEUCOCYTES [J].

CLAYTON, DA ;

VINOGRAD, J .

NATURE, 1967, 216 (5116) :652-&

[20] REPLICATION OF ANIMAL MITOCHONDRIAL-DNA [J].

CLAYTON, DA .

CELL, 1982, 28 (04) :693-705

← 1 2 3 4 5 6 7 8 9 10 →