The epidemiology of mitochondrial disorders - past, present and future

被引：274

作者：

Schaefer, AM ^{[1
]}

Taylor, RW ^{[1
]}

Turnbull, DM ^{[1
]}

Chinnery, PF ^{[1
]}

机构：

[1] Newcastle Univ, Mitochondrial Res Grp, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

来源：

BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS | 2004年 / 1659卷 / 2-3期

关键词：

mitochondria; mitochondrial disease; mtDNA; epidemiology; mitochondrial encephalomopathy;

D O I：

10.1016/j.bbabio.2004.09.005

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

A number of epidemiological studies of mitochondrial disease have been carried out over the last decade, clearly demonstrating that mitochondrial disorders are far more common than was previously accepted. This review summarizes current knowledge of the prevalence of human mitochondrial disorders-data that has important implications for the provision of health care and adequate resources for research into the pathogenesis and treatment of these disorders. (C) 2004 Elsevier B.V. All rights reserved.

引用

页码：115 / 120

页数：6

共 33 条

[1] SEQUENCE AND ORGANIZATION OF THE HUMAN MITOCHONDRIAL GENOME [J].

ANDERSON, S ;

BANKIER, AT ;

BARRELL, BG ;

DEBRUIJN, MHL ;

COULSON, AR ;

DROUIN, J ;

EPERON, IC ;

NIERLICH, DP ;

ROE, BA ;

SANGER, F ;

SCHREIER, PH ;

SMITH, AJH ;

STADEN, R ;

YOUNG, IG .

NATURE, 1981, 290 (5806) :457-465

[2] ISCHEMIC STROKE IN ADULTS YOUNGER THAN 30 YEARS OF AGE - CAUSE AND PROGNOSIS [J].

BOGOUSSLAVSKY, J ;

REGLI, F .

ARCHIVES OF NEUROLOGY, 1987, 44 (05) :479-482

[3] Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction [J].

Carelli, V ;

Giordano, C ;

d'Amati, G .

TRENDS IN GENETICS, 2003, 19 (05) :257-262

[4]

Chinnery PF, 2000, ANN NEUROL, V48, P188, DOI 10.1002/1531-8249(200008)48:2<188::AID-ANA8>3.3.CO

[5]

2-G

[6] Epidemiology and treatment of mitochondrial disorders [J].

Chinnery, PF ;

Turnbull, DM .

AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 106 (01) :94-101

[7] MELAS - CLINICAL-FEATURES, BIOCHEMISTRY, AND MOLECULAR-GENETICS [J].

CIAFALONI, E ;

RICCI, E ;

SHANSKE, S ;

MORAES, CT ;

SILVESTRI, G ;

HIRANO, M ;

SIMONETTI, S ;

ANGELINI, C ;

DONATI, MA ;

GARCIA, C ;

MARTINUZZI, A ;

MOSEWICH, R ;

SERVIDEI, S ;

ZAMMARCHI, E ;

BONILLA, E ;

DEVIVO, DC ;

ROWLAND, LP ;

SCHON, EA ;

DIMAURO, S .

ANNALS OF NEUROLOGY, 1992, 31 (04) :391-398

[8] The incidence of mitochondrial encephalomyopathies in childhood: Clinical features and morphological, biochemical, and DNA abnormalities [J].

Darin, N ;

Oldfors, A ;

Moslemi, AR ;

Holme, E ;

Tulinius, M .

ANNALS OF NEUROLOGY, 2001, 49 (03) :377-383

[9] No association of the mitochondrial DNA A12308G polymorphism with increased risk of stroke in patients with the A3243G mutation [J].

Deschauer, M ;

Chinnery, PF ;

Schaefer, AM ;

Turnbull, DM ;

Taylor, RW ;

Deschauer, M ;

Zierz, S ;

Shanske, S ;

DiMauro, S ;

Majamaa, K ;

Wilichowski, E ;

Thorburn, DR .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2004, 75 (08) :1204-1205

[10] A novel Twinkle gene mutation in autosomal dominant progressive. external ophthalmoplegia [J].

Deschauer, M ;

Kiefer, R ;

Blakely, EL ;

He, LP ;

Zierz, S ;

Turnbull, DM ;

Taylor, RW .

NEUROMUSCULAR DISORDERS, 2003, 13 (7-8) :568-572

← 1 2 3 4 →