Mitochondrial diseases

The development of Huntington's disease (HD) is associated with muscle pathology, manifesting in wasting and atrophy, and accompanied by defects in energy metabolism. However, the precise mitochondrial respiratory chain alterations have not been yet defined for different stages of HD development in patients. Muscle samples were acquired by a fine-needle biopsy method from the middle part of the m. rectus femoris of 8 HD pre-symptomatic patients (age, mean ±SD, 27±3.25 years), 8 symptomatic patients (43.1±5.59 years) and 15 age and sex-matched controls (28.5±3.21 years, matched to pre-symptomatic; 40.3±5.59 years, matched to symptomatic) for further analysis.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research