MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I
Articolo
Data di Pubblicazione:
2012
Citazione:
MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I / C. Lamperti, D. Diodato, E. Lamantea, F. Carrara, D. Ghezzi, P. Mereghetti, R. Rizzi, M. Zeviani. - In: NEUROMUSCULAR DISORDERS. - ISSN 0960-8966. - 22:11(2012), pp. 990-994. [10.1016/j.nmd.2012.06.003]
Abstract:
We report a 35-year-old woman presenting a stroke-like episode with transitory aphasia followed by generalized tonic-clonic seizures. She had severe hearing loss and suffered from frequent episodes of migraine. Although a brain MRI disclosed a T2-hyperintense lesion in the left parietal lobe, she had hardly any long-term sequela. Exercise intolerance, myalgias and limb-girdle muscle weakness indicated a slowly progressive myopathy. Extra-neurological features included short stature, and secondary amenorrhea with low gonadotropin levels, indicating secondary hypogonadism. However, she had three mutation-free, healthy children by ovarian stimulation. A muscle biopsy showed ragged-red, cytochrome c oxidase-negative fibers, and an isolated defect of cytochrome c oxidase activity in muscle mitochondria. Sequence analysis of muscle mtDNA revealed a previously unreported heteroplasmic m.6597C>A transversion in the MTCOI gene, encoding subunit I of cytochrome c oxidase, corresponding to p.Q232K aminoacid change. Analysis on transmitochondrial cybrids demonstrated that the mutation is indeed associated with COX deficiency, i.e. pathogenic.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
mtDNA; Mutation; MELAS; Cytochrome c oxidase; COX; Ragged-red fibers; SDH; Stroke-like episode; MTCOI; Mitochondrial disorder; Respiratory chain
Elenco autori:
C. Lamperti, D. Diodato, E. Lamantea, F. Carrara, D. Ghezzi, P. Mereghetti, R. Rizzi, M. Zeviani
Link alla scheda completa: