Mitochondrial DNA does not appear to influence the congenital onset type of myotonic dystrophy.
AUTOR(ES)
Poulton, J
RESUMO
Neither the maternal inheritance pattern nor the early onset of congenital myotonic dystrophy are fully explained. One possible mechanism is that mitochondrial DNA (mtDNA) mutations might interact with the DM gene product, producing an earlier onset than would otherwise occur. We have used Southern hybridisation to show that high levels of major rearrangements of mtDNA are not present in muscle of five and in blood of 35 patients with congenital myotonic dystrophy. We used sequence analysis to show that no one particular mtDNA morph appears to cosegregate with congenital onset. A minor degree of depletion of mtDNA compared with nuclear DNA was present in the muscle of five patients with congenital DM, but we propose that this is not the primary cause of the muscle pathology but secondary to it. We have not found evidence that mtDNA is involved in congenital myotonic dystrophy.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1051676Documentos Relacionados
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