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Titolo:
MACULAR PATTERN RETINAL DYSTROPHY, ADULT-ONSET DIABETES, AND DEAFNESS- A FAMILY STUDY OF A3243G MITOCHONDRIAL HETEROPLASMY
Autore:
HARRISON TJ; BOLES RG; JOHNSON DR; LEBLOND C; WONG LJC;
Indirizzi:
UNIV SO CALIF,CHILDRENS HOSP LOS ANGELES,SCH MED,DEPT PATHOL,MOL GENET LAB,MS103 LOS ANGELES CA 90027 UNIV SO CALIF,CHILDRENS HOSP LOS ANGELES,SCH MED,DEPT PATHOL,MOL GENET LAB LOS ANGELES CA 90027 UNIV SO CALIF,CHILDRENS HOSP LOS ANGELES,SCH MED,DEPT PEDIAT LOS ANGELES CA 90027 DIV PUBL HLTH STATE ALASKA ANCHORAGE AK 00000 ALASKA RETINAL CONSULTANTS ANCHORAGE AK 00000
Titolo Testata:
American journal of ophthalmology
fascicolo: 2, volume: 124, anno: 1997,
pagine: 217 - 221
SICI:
0002-9394(1997)124:2<217:MPRDAD>2.0.ZU;2-2
Fonte:
ISI
Lingua:
ENG
Soggetto:
CLINICAL-FEATURES; LACTIC-ACIDOSIS; EPISODES MELAS; POINT MUTATION; DNA; MYOPATHY; ENCEPHALOMYOPATHY; MANIFESTATIONS; MELLITUS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
19
Recensione:
Indirizzi per estratti:
Citazione:
T.J. Harrison et al., "MACULAR PATTERN RETINAL DYSTROPHY, ADULT-ONSET DIABETES, AND DEAFNESS- A FAMILY STUDY OF A3243G MITOCHONDRIAL HETEROPLASMY", American journal of ophthalmology, 124(2), 1997, pp. 217-221

Abstract

PURPOSE: To correlate mitochondrial DNA (mtDNA) mutation with phenotypic expression in three members of a Finnish family with macroreticular pattern dystrophy, non-insulin dependent diabetes mellitus, and deafness. METHODS: A multiplex polymerase chain reaction/allele-specific oligonucleotide method was used to screen 10 mtDNA point mutations known to cause mitochondrial DNA disorders, often characterized by myopathy, retinopathy, or both. Quantitative analysis of mutant mitochondrialDNA was performed in three tissue types in each of three family members by determining the percentage of mutant mtDNA in blood, buccal cells, and hair follicles. RESULTS: A heteroplasmic A3243G mtDNA point mutation was found in each of the three family members studied, Heteroplasmy refers to the coexistence of normal and mutant mitochondria in thesame cell, The average percentage of mutant heteroplasmy ranged from 11% to 25%. The severity of disease symptoms did not appear to correlate with the average degree of mutant heteroplasmy in the three tissuesanalyzed. CONCLUSIONS: Molecular confirmation in this family emphasizes the importance of mitochondrial DNA mutation analysis in patients with macular pattern retinal dystrophy and other mitochondrial associated nonocular diseases, such as non-insulin-dependent diabetes mellitusand deafness. The detection of a disease-associated mitochondrial DNAmutation warrants genetic counseling, appropriate patient follow-up, and possibly the molecular testing of other at-risk family members.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/07/20 alle ore 13:06:41