We report on a 43-year-old male suffering a severe reduction of visual acuity and optic atrophy of uncertain etiology. No other individuals with a similar distubance were reported in the proband's family, but a high recurrence of strokes, also occurring in young adults, diabetes and migrane were present along the maternal line. Testing for the primary mtDNA LHON mutations and for np 3243/MELAS mutation was negative, but the two secondary LHON mutations (nps 4216/ND1 and 13708/ND5), belonging to the Caucasian mtDNA haplogroup J were present. 31P-NMR Spectroscopy showed a deficient bioenergetic mitochondrial metabolism in both muscle and brain. Muscle biopsy revealed an increase of lipid content confirmed by electron microscopy that also showed subsarcolennmal accumulations of mitochondria. Basal and after effort serum lactic acid was unremarkable as was platelet complex I activity. Investigations for major predisposition factors to stroke evidenced heterozigosity for Factor V Leiden. We fused fibroblast-derived cytoplasts with rhoa cells (206) depleted of mtDNA obtaining cybrid cejl clones carrying the mt genome from our patient. O2 consumption was strongly deficient in three out of five clones investigated. Our preliminary findings suggest an mtDNA defect, possibly hetcroplasmic to account for the varying respiratory pattern in the different cybrid clones.
|Number of pages||1|
|Journal||Italian Journal of Neurological Sciences|
|Publication status||Published - 1997|
ASJC Scopus subject areas
- Clinical Neurology