Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation

被引：61

作者：

Bataillard, M

Chatzoglou, E

Rumbach, L

Sternberg, D

Tournade, A

Laforêt, P

Jardel, C

Maisonobe, T

Lombès, A ^{[1
]}

机构：

[1] Hop La Pitie Salpetriere, Inst Myol, INSERM, U523, F-75651 Paris 13, France

[2] Hop A Boulloche, Montbeliard, France

[3] Hop La Pitie Salpetriere, Serv Biochim B, Paris, France

[4] Hop La Pitie Salpetriere, Serv Neuropathol, Paris, France

来源：

NEUROLOGY | 2001年 / 56卷 / 03期

关键词：

D O I：

10.1212/WNL.56.3.405

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The authors studied a 47-year-old patient who presented with an association of deafness, acute cerebral stroke-like episode, leukoencephalopathy, and extensive basal ganglia calcifications. Late onset and neuroradiologic findings were atypical for MELAS syndrome (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Strokelike episodes). A heteroplasmic G to A transition at nucleotide 4332 in the tRNA glutamine gene was identified in the patient's muscle mitochondrial DNA. The pathogenicity of the mutation was shown in single muscle fibers by the correlation between high mutation load and cytochrome c oxidase defect.

引用

收藏

页码：405 / 407

页数：3

相关论文

共 10 条

[1] The spectrum of hearing loss due to mitochondrial DNA defects [J].

Chinnery, PF ;

Elliott, C ;

Green, GR ;

Rees, A ;

Coulthard, A ;

Turnbull, DM ;

Griffiths, TD .

BRAIN, 2000, 123 :82-92

[2] Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency [J].

de Lonlay-Debeney, P ;

von Kleist-Retzow, JC ;

Hertz-Pannier, L ;

Peudenier, S ;

Cormier-Daire, V ;

Berquin, P ;

Chrétien, D ;

Rötig, A ;

Saudubray, JM ;

Baraton, J ;

Brunelle, F ;

Rustin, P ;

Van der Knaap, M ;

Munnich, A .

JOURNAL OF PEDIATRICS, 2000, 136 (02) :209-214

[3] A MUTATION IN THE TRANSFER RNALEU(UUR) GENE ASSOCIATED WITH THE MELAS SUBGROUP OF MITOCHONDRIAL ENCEPHALOMYOPATHIES [J].

GOTO, Y ;

NONAKA, I ;

HORAI, S .

NATURE, 1990, 348 (6302) :651-653

[4] THE MITOCHONDRIAL-DNA TRANSFER RNA(LEU(UUR)) A-]G((3243)) MUTATION - A CLINICAL AND GENETIC-STUDY [J].

HAMMANS, SR ;

SWEENEY, MG ;

HANNA, MG ;

BROCKINGTON, M ;

MORGANHUGHES, JA ;

HARDING, AE .

BRAIN, 1995, 118 :721-734

[5] MELAS - AN ORIGINAL CASE AND CLINICAL-CRITERIA FOR DIAGNOSIS [J].

HIRANO, M ;

RICCI, E ;

KOENIGSBERGER, MR ;

DEFENDINI, R ;

PAVLAKIS, SG ;

DEVIVO, DC ;

DIMAURO, S ;

ROWLAND, LP .

NEUROMUSCULAR DISORDERS, 1992, 2 (02) :125-135

[6] The common MELAS mutation A3243G in mitochondrial DNA among young patients with an occipital brain infarct [J].

Majamaa, K ;

Turkka, J ;

Karppa, M ;

Winqvist, S ;

Hassinen, IE .

NEUROLOGY, 1997, 49 (05) :1331-1334

[7] MOLECULAR ANALYSIS OF THE MUSCLE PATHOLOGY ASSOCIATED WITH MITOCHONDRIAL-DNA DELETIONS [J].

MORAES, CT ;

RICCI, E ;

PETRUZZELLA, V ;

SHANSKE, S ;

DIMAURO, S ;

SCHON, EA ;

BONILLA, E .

NATURE GENETICS, 1992, 1 (05) :359-367

[8] IMMUNOHISTOCHEMICAL ANALYSIS OF MUSCLE CYTOCHROME-C-OXIDASE DEFICIENCY IN CHILDREN [J].

POSSEKEL, S ;

LOMBES, A ;

DEBAULNY, HO ;

CHEVAL, MA ;

FARDEAU, M ;

KADENBACH, B ;

ROMERO, NB .

HISTOCHEMISTRY AND CELL BIOLOGY, 1995, 103 (01) :59-68

[9]

Simon DK, 1999, ANNU REV MED, V50, P111

[10] Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders [J].

Sternberg, D ;

Danan, C ;

Lombès, A ;

Laforêt, P ;

Girodon, E ;

Goossens, M ;

Amselem, S .

HUMAN MOLECULAR GENETICS, 1998, 7 (01) :33-42