Apoptosis in metabolic myopathies.

Abstract:

:DNA fragmentation, the hallmark of apoptosis, has been recently investigated with contradictory results in several skeletal muscle disorders. Using in situ labeling of nuclear DNA fragmentation, we have tested the possibility that apoptosis might occur in muscles from patients with mitochondrial respiratory chain defects and other types of metabolic myopathies. A high proportion of apoptotic myonuclei were found in all of 10 patients with mitochondrial myopathies and in one patient with multiple acyl-CoA dehydrogenase deficiency, a disease also affecting mitochondrial metabolism. These findings can be related to the intriguing link existing between apoptosis and mitochondria. It has been demonstrated that a fall of mitochondrial membrane potential constitutes a critical early event in the apoptotic process, and that mitochondrial bcl-2 protein, which protects from apoptosis, apparently functions as an endogenous permeability transition inhibitor.

journal_name

Neuroreport

journal_title

Neuroreport

authors

Monici MC,Toscano A,Girlanda P,Aguennouz M,Musumeci O,Vita G

doi

10.1097/00001756-199807130-00050

subject

Has Abstract

pub_date

1998-07-13 00:00:00

pages

2431-5

issue

10

eissn

0959-4965

issn

1473-558X

journal_volume

9

pub_type

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