Mitochondrial DNA depletion in a patient with long survival

被引：29

作者：

Vu, TH

Tanji, K

Valsamis, H

DiMauro, S

Bonilla, E

机构：

[1] Columbia Univ, Coll Phys & Surg, H Houston Merritt Clin Res Ctr Muscular Dystrophy, New York, NY 10032 USA

[2] SUNY Hlth Sci Ctr, Dept Neurol, Brooklyn, NY 11203 USA

来源：

NEUROLOGY | 1998年 / 51卷 / 04期

关键词：

D O I：

10.1212/WNL.51.4.1190

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We studied a 29-year-old woman with myopathy since childhood with evidence of mitochondrial DNA (mtDNA) depletion. Muscle biopsy sample showed cytochrome c oxidase (COX)-negative fibers. Biochemistry showed COX deficiency. Southern blot analysis showed 76% depletion of mtDNA as compared with controls. This patient's clinical course suggests that long survival is possible in some patients with mtDNA depletion.

引用

页码：1190 / 1193

页数：4

共 9 条

[1] ELECTRON CYTOCHEMISTRY OF CRYSTALLINE INCLUSIONS IN HUMAN SKELETAL-MUSCLE MITOCHONDRIA [J].

BONILLA, E ;

SCHOTLAND, DL ;

DIMAURO, S ;

ALDOVER, B .

JOURNAL OF ULTRASTRUCTURE RESEARCH, 1975, 51 (03) :404-408

[2] Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses [J].

Carrozzo, R ;

Hirano, M ;

Fromenty, B ;

Casali, C ;

Santorelli, FM ;

Bonilla, E ;

DiMauro, S ;

Schon, EA ;

Miranda, AF .

NEUROLOGY, 1998, 50 (01) :99-106

[3] FATAL INFANTILE MITOCHONDRIAL MYOPATHY AND RENAL DYSFUNCTION DUE TO CYTOCHROME-C-OXIDASE DEFICIENCY [J].

DIMAURO, S ;

MENDELL, JR ;

SAHENK, Z ;

BACHMAN, D ;

SCARPA, A ;

SCOFIELD, RM ;

REINER, C .

NEUROLOGY, 1980, 30 (08) :795-804

[4]

MORAES CT, 1991, AM J HUM GENET, V48, P492

[5] Mitochondrial myopathy simulating spinal muscular atrophy [J].

Pons, R ;

Andreetta, F ;

Wang, CH ;

Vu, TH ;

Bonilla, E ;

DiMauro, S ;

DeVivo, DC .

PEDIATRIC NEUROLOGY, 1996, 15 (02) :153-158

[6] VARIATION IN MITOCHONDRIAL-DNA LEVELS IN MUSCLE FROM NORMAL CONTROLS - IS DEPLETION OF MTDNA IN PATIENTS WITH MITOCHONDRIAL MYOPATHY A DISTINCT CLINICAL SYNDROME [J].

POULTON, J ;

SEWRY, C ;

POTTER, CG ;

BOUGERON, T ;

CHRETIEN, D ;

WIJBURG, FA ;

MORTEN, KJ ;

BROWN, G .

JOURNAL OF INHERITED METABOLIC DISEASE, 1995, 18 (01) :4-20

[7]

SCHON EA, 1994, MITOCHONDRIAL DISORD, P40

[8] MITOCHONDRIAL MYOPATHY OF CHILDHOOD ASSOCIATED WITH DEPLETION OF MITOCHONDRIAL-DNA [J].

TRITSCHLER, HJ ;

ANDREETTA, F ;

MORAES, CT ;

BONILLA, E ;

ARNAUDO, E ;

DANON, MJ ;

GLASS, S ;

ZELAYA, BM ;

VAMOS, E ;

TELERMANTOPPET, N ;

SHANSKE, S ;

KADENBACH, B ;

DIMAURO, S ;

SCHON, EA .

NEUROLOGY, 1992, 42 (01) :209-217

[9] Clinical manifestations of mitochondrial DNA depletion [J].

Vu, TH ;

Sciacco, M ;

Tanji, K ;

Nichter, C ;

Bonilla, E ;

Chatkupt, S ;

Maertens, P ;

Shanske, S ;

Mendell, J ;

Koenigsberger, MR ;

Sharer, L ;

Schon, EA ;

DiMauro, S ;

DeVivo, DC .

NEUROLOGY, 1998, 50 (06) :1783-1790

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