Open AccessImpaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy
Author(s) -
Michela Ripolone,
Dario Ronchi,
Raffaella Violano,
Dionis Vallejo,
Gigliola Fagiolari,
Emanuele Barca,
Valeria Lucchini,
Irene Colombo,
Luísa Villa,
Angela Berardinelli,
Umberto Balottin,
Lucia Morandi,
Marina Mora,
Andreina Bordoni,
Francesco Fortunato,
Stefania Corti,
Daniela Parisi,
António Toscano,
Monica Sciacco,
Salvatore DiMauro,
Giacomo P. Comi,
Maurizio Moggio
Publication year - 2015
Publication title -
jama neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.298
H-Index - 231
eISSN - 2168-6157
pISSN - 2168-6149
DOI - 10.1001/jamaneurol.2015.0178
Subject(s) - sma* , spinal muscular atrophy , muscle biopsy , mitochondrial biogenesis , mitochondrial myopathy , mitochondrion , medicine , respiratory chain , mitochondrial disease , muscle atrophy , cytochrome c oxidase , skeletal muscle , endocrinology , myogenesis , biology , pathology , biopsy , mitochondrial dna , biochemistry , disease , gene , mathematics , combinatorics
The important depletion of mitochondrial DNA (mtDNA) and the general depression of mitochondrial respiratory chain complex levels (including complex II) have been confirmed, implying an increasing paucity of mitochondria in the muscle from patients with types I, II, and III spinal muscular atrophy (SMA-I, -II, and -III, respectively).
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