Mitochondrial gene mutation, but not large-scale deletion, is a feature of colorectal carcinomas with mitochondrial microsatellite instability.
Int J Cancer
; 83(5): 625-9, 1999 Nov 26.
Article
em En
| MEDLINE
| ID: mdl-10521798
ABSTRACT
We have shown that microsatellite instability (MSI) occurs in mitochondrial DNA (mtDNA) of colorectal carcinomas. To determine whether such mitochondrial microsatellite instability (mtMSI) is associated with certain forms of mitochondrial gene alterations, we extended the screening in the same series of 45 carcinomas. Analysis by whole mtDNA amplification (16.5 kb) and digestion revealed no detectable large-scale change in these carcinomas. In contrast, single-strand conformation polymorphism (SSCP) analysis demonstrated NADH dehydrogense (ND) gene alterations in 7 carcinomas (16%), including 3 mononucleotide repeat alterations, 2 missense mutations and 1 small (15 bp) deletion. Six of these 7 carcinomas also exhibited mtMSI of the (C)n sequence in the displacement-loop (D-loop) region. Thus, frameshift or missense mutations rather than large-scale changes in the mtDNA were more common features in colorectal carcinomas with mtMSI. By analogy to mutational features of nuclear MSI, mtMSI most likely results from certain repair deficiencies in the mtDNA and probably plays a role in the tumor development of certain colorectal carcinomas.
Buscar no Google
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
DNA Mitocondrial
/
Carcinoma
/
Neoplasias Colorretais
/
Mutação da Fase de Leitura
/
Repetições de Microssatélites
/
Mutação de Sentido Incorreto
Limite:
Humans
Idioma:
En
Revista:
Int J Cancer
Ano de publicação:
1999
Tipo de documento:
Article
País de afiliação:
Japão
País de publicação:
EEUU
/
ESTADOS UNIDOS
/
ESTADOS UNIDOS DA AMERICA
/
EUA
/
UNITED STATES
/
UNITED STATES OF AMERICA
/
US
/
USA