the role of mitochondria in ataxia-telangiectasia: investigation of mitochondrial deletions and haplogroups

ataxia-telangiectasia (at) is a rare human neurodegenerative autosomal recessive multisystem disease characterized by a wide range of features including progressive cerebellar ataxia during infancy, occulocutaneous telangiectasia, susceptibility to neoplasia, occulomotor disturbances, chromosomal instability and growth and developmental abnormalities. mitochondrial dna (mtdna) has the only non-coding regions at the displacement loop (d-loop) region that contains two hypervariable segments (hvs-i and hvs-ii) with high polymorphism. we investigated mt-dna deletions and haplogroups in at patients. in this study, 24 iranian patients suffering from at and 100 normal controls were examined. mt-dna was extracted from their whole blood and examined by 6 primers for the existence of mitochondrial deletions. we also amplified and sequenced mtdna hvs-i by standard sequencing techniques. mtdna deletions were observed in 54.1% (13/24) of patients (8.9 kb deletion in all samples, 5.0 kb in one and 7.5 kb in two patients), representing mtdna damage which may be due to oxidative stress in mitochondria. our results showed that there was no association between mtdna haplogroups and at. this data may indicate involvement of mitochondrial damage in the pathogenesis of at.