A T-]C MUTATION AT NT-8993 OF MITOCHONDRIAL-DNA IN A CHILD WITH LEIGH-SYNDROME

被引：90

作者：

SANTORELLI, FM

SHANSKE, S

JAIN, KD

TICK, D

SCHON, EA

DIMAURO, S

机构：

[1] COLUMBIA PRESBYTERIAN MED CTR,H HOUSTON MERRITT CLIN RES CTR MUSCULAR DYSTROPHY,DEPT NEUROL,NEW YORK,NY 10032

[2] COLUMBIA PRESBYTERIAN MED CTR,H HOUSTON MERRITT CLIN RES CTR MUSCULAR DYSTROPHY,DEPT GENET & DEV,NEW YORK,NY 10032

[3] CHILDRENS HOSP LOS ANGELES,DIV MED GENET,LOS ANGELES,CA 90027

来源：

NEUROLOGY | 1994年 / 44卷 / 05期

关键词：

D O I：

10.1212/WNL.44.5.972

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A 5-year-old child with clinical and radiologic evidence of Leigh syndrome (LS) showed a T-->C mutation at position nt 8993 in the mitochondrial DNA (instead of the more common T-->G substitution), resulting in an amino acid change from a highly conserved leucine to proline in subunit 6 of mitochondrial ATPase. The mutation was heteroplasmic and maternally inherited, and was present in high percentages in multiple tissues. This finding documents genetic heterogeneity of the ATPase 6 gene mutation associated with LS.

引用

页码：972 / 974

页数：3

共 10 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] MATERNALLY INHERITED LEIGH SYNDROME [J].

CIAFALONI, E ;

SANTORELLI, FM ;

SHANSKE, S ;

DEONNA, T ;

ROULET, E ;

JANZER, C ;

PESCIA, G ;

DIMAURO, S .

JOURNAL OF PEDIATRICS, 1993, 122 (03) :419-422

[3]

HARTZOG PE, 1993, J BIOL CHEM, V268, P12250

[4]

HOLT IJ, 1990, AM J HUM GENET, V46, P428

[5] SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY IN AN INFANT [J].

LEIGH, D .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1951, 14 (03) :216-221

[6]

MORAES CT, 1992, AM J HUM GENET, V50, P934

[7] RAPID AND SENSITIVE DETECTION OF POINT MUTATIONS AND DNA POLYMORPHISMS USING THE POLYMERASE CHAIN-REACTION [J].

ORITA, M ;

SUZUKI, Y ;

SEKIYA, T ;

HAYASHI, K .

GENOMICS, 1989, 5 (04) :874-879

[8] THE MUTATION AT NT-8993 OF MITOCHONDRIAL-DNA IS A COMMON-CAUSE OF LEIGHS SYNDROME [J].

SANTORELLI, FM ;

SHANSKE, S ;

MACAYA, A ;

DEVIVO, DC ;

DIMAURO, S .

ANNALS OF NEUROLOGY, 1993, 34 (06) :827-834

[9] THE MITOCHONDRIAL-DNA MUTATION AT 8993 ASSOCIATED WITH NARP SLOWS THE RATE OF ATP SYNTHESIS IN ISOLATED LYMPHOBLAST MITOCHONDRIA [J].

TATUCH, Y ;

ROBINSON, BH .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1993, 192 (01) :124-128

[10]

TATUCH Y, 1992, AM J HUM GENET, V50, P852

← 1 →