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Titolo:
Detection of MELAS A3243G point mutation in muscle, blood and hair follicles
Autore:
Sue, CM; Quigley, A; Katsabanis, S; Kapsa, R; Crimmins, DS; Byrne, E; Morris, JGL;
Indirizzi:
Univ Sydney, Dept Neurol, Sydney, NSW 2006, Australia Univ Sydney Sydney NSW Australia 2006 Neurol, Sydney, NSW 2006, Australia Westmead Hosp, Sydney, NSW, Australia Westmead Hosp Sydney NSW AustraliaWestmead Hosp, Sydney, NSW, Australia Univ Melbourne, Melbourne Neuromuscular Res Ctr, Melbourne, Vic, AustraliaUniv Melbourne Melbourne Vic Australia es Ctr, Melbourne, Vic, Australia St Vincents Hosp, Melbourne, Vic, Australia St Vincents Hosp Melbourne Vic Australia Hosp, Melbourne, Vic, Australia
Titolo Testata:
JOURNAL OF THE NEUROLOGICAL SCIENCES
fascicolo: 1, volume: 161, anno: 1998,
pagine: 36 - 39
SICI:
0022-510X(19981126)161:1<36:DOMAPM>2.0.ZU;2-V
Fonte:
ISI
Lingua:
ENG
Soggetto:
MITOCHONDRIAL-DNA; SKELETAL-MUSCLE; LACTIC-ACIDOSIS; EPISODES MELAS; ENCEPHALOMYOPATHY; MYOPATHY; SEGREGATION; DELETIONS; PATIENT; DRIFT;
Keywords:
MELAS syndrome; tissue distribution; MELAS A3243G point mutation; mitochondrial DNA; MtDNA analysis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
16
Recensione:
Indirizzi per estratti:
Indirizzo: Sue, CM Columbia10032, Coll Phys & Surg, Dept Neurol, 630 W 168th St, New York, NY Columbia Univ 630 W 168th St New York NY USA 10032 t, New York, NY
Citazione:
C.M. Sue et al., "Detection of MELAS A3243G point mutation in muscle, blood and hair follicles", J NEUR SCI, 161(1), 1998, pp. 36-39

Abstract

Polymerase chain reaction (PCR) based methods for the diagnosis and screening of the mitochondrial disorders have been well established. A number of tissues are routinely used. In this study, we compared the detection rate for MELAS A3243G point mutation in muscle, blood and hair follicles. Ten subjects were studied; mean age was 47 years, (SD 16, range 23-73). All ten subjects had the MELAS A3243G point mutation detected in muscle and hair follicles, but only five had the abnormality in blood samples. The rate of detection of the point mutation in blood samples was age dependent. MtDNA analysis on hair follicles is as sensitive as muscle in detecting this mutation. Analysis using blood samples is not as sensitive, particularly in older subjects. The absence of the mutation in blood samples suggests that there isa preferential selection process for normal (wild type) mtDNA over time. This may be related to the rate of cell division and energy requirements of each tissue. (C) 1998 Elsevier Science B.V. All rights reserved.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 11/07/20 alle ore 04:41:53