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Lack of apoptosis in patients with progressive external ophthalmoplegia and mutated adenine nucleotide translocator‐1 gene
Author(s) -
Fagiolari Gigliola,
Sciacco Monica,
Chiveri Luca,
Lamperti Costanza,
Comi Giacomo Pietro,
Scarlato Guglielmo,
Moggio Maurizio,
Prelle Alessandro
Publication year - 2002
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.10172
Subject(s) - adenine nucleotide translocator , tunel assay , external ophthalmoplegia , apoptosis , biology , gene , locus (genetics) , mitochondrion , translocator protein , genetics , mitochondrial dna , microbiology and biotechnology , pathology , medicine , immunology , inflammation , neuroinflammation
Adenine nucleotide translocator‐1 (ANT‐1), encoded by chromosome 4 (4q34‐35 locus), is a component of the mitochondrial permeability transition pores that are involved in apoptotic mechanisms. We studied muscle biopsies from seven individuals with autosomal dominant progressive external ophthalmoplegia caused by ANT‐1 mutations. We found no instance of terminal deoxynucleotidyltransferase‐mediated dUTP nick end labeling (TUNEL) positivity nor significant expression of apoptosis‐related proteins. Furthermore, there was no morphological evidence of apoptosis at the ultrastructural level. Thus, degeneration of muscle in this disorder is nonapoptotic. © 2002 Wiley Periodicals, Inc. Muscle Nerve 26: 265–269, 2002