Mitochondrial DNA mutations and pathogenesis

被引：361

作者：

Schon, EA ^{[1
]}

Bonilla, E ^{[1
]}

DiMauro, S ^{[1
]}

机构：

[1] COLUMBIA UNIV, DEPT GENET & DEV, NEW YORK, NY 10032 USA

来源：

JOURNAL OF BIOENERGETICS AND BIOMEMBRANES | 1997年 / 29卷 / 02期

关键词：

ATP; cardiopathy; deafness; diabetes; encephalomyopathy; KSS; Leigh; LHON; maternal inheritance; MELAS; MERRF; mitochondrial DNA; muscle; MILS; myopathy; NARP; oxidative phosphorylation; PEO; respiratory chain;

D O I：

10.1023/A:1022685929755

中图分类号：

Q6 [生物物理学];

学科分类号：

071011 ;

摘要：

Approximately three years ago, this journal published a review on the clinical and molecular analysis of mitochondrial encephalomyopathies, with emphasis on defects in mitochondrial DNA (mtDNA). At that time, approximately 30 point mutations associated with a variety of maternally-inherited (or rarely, sporadic) disorders had been described. Since that time, almost twenty new pathogenic mtDNA point mutations have been described, and the pace of discovery of such mutations shows no signs of abating. This accumulating body of data has begun to reveal some patterns that may be relevant to pathogenesis.

引用

页码：131 / 149

页数：19

共 190 条

[31] ATP AND BRAIN-FUNCTION [J].

ERECINSKA, M ;

SILVER, IA .

JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM, 1989, 9 (01) :2-19

[32]

ERICKSONVIITANEN S, 1982, J BIOL CHEM, V257, P4395

[33] THE 3243-MELAS MUTATION IN A PEDIGREE WITH MERRF [J].

FOLGERO, T ;

TORBERGSEN, T ;

OIAN, P .

EUROPEAN NEUROLOGY, 1995, 35 (03) :168-171

[34] Efficient and specific amplification of identified partial duplications of human mitochondrial DNA by long PCR [J].

Fromenty, B ;

Manfredi, G ;

Sadlock, J ;

Zhang, L ;

King, MP ;

Schon, EA .

BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION, 1996, 1308 (03) :222-230

[35]

FROMENTY B, 1997, IN PRESS AM J MED GE

[36] A novel heteroplasmic tRNA(leu(CUN)) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy [J].

Fu, K ;

Hartlen, R ;

Johns, T ;

Genge, A ;

Karpati, G ;

Shoubridge, EA .

HUMAN MOLECULAR GENETICS, 1996, 5 (11) :1835-1840

[37] MYOCLONUS EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (MITOCHONDRIAL ABNORMALITIES) - DISEASE ENTITY OR A SYNDROME - LIGHT-MICROSCOPIC AND ELECTRON-MICROSCOPIC STUDIES OF 2 CASES AND REVIEW OF LITERATURE [J].

FUKUHARA, N ;

TOKIGUCHI, S ;

SHIRAKAWA, K ;

TSUBAKI, T .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 1980, 47 (01) :117-133

[38] A heteroplasmic point mutation of mitochondrial tRNA(Leu)(CUN) in non-lymphoid haemopoietic cell lineages from a patient with acquired idiopathic sideroblastic anaemia [J].

Gattermann, N ;

Retzlaff, S ;

Wang, YL ;

Berneburg, M ;

Heinisch, J ;

Wlaschek, M ;

Aul, C ;

Schneider, W .

BRITISH JOURNAL OF HAEMATOLOGY, 1996, 93 (04) :845-855

[39] DIABETES-MELLITUS IS ONE OF THE HETEROGENEOUS PHENOTYPIC FEATURES OF A MITOCHONDRIAL-DNA POINT MUTATION WITHIN THE TRANSFER-RNA LEU(UUR) GENE [J].

GERBITZ, KD ;

PAPROTTA, A ;

JAKSCH, M ;

ZIERZ, S ;

DRECHSEL, J .

FEBS LETTERS, 1993, 321 (2-3) :194-196

[40] A NOVEL POINT MUTATION IN THE MITOCHONDRIAL TRANSFER RNALEU(UUR) GENE IN A FAMILY WITH MITOCHONDRIAL MYOPATHY [J].

GOTO, Y ;

TOJO, M ;

TOHYAMA, J ;

HORAI, S ;

NONAKA, I .

ANNALS OF NEUROLOGY, 1992, 31 (06) :672-675

← 1 2 3 4 5 6 7 8 9 10 →