Multiple Sclerosis (MS) is a multifocal demyelinating central nervous system disorder
in which interplay between genes and the environment are supposed to be involved. Mitochondrial
DNA (mtDNA) has the only non-coding regions at the displacement loop (Dloop)
region that contains two hypervariable segments (HVS-I andHVS-II) with high polymorphism.
mtDNA has already been fully sequenced and many subsequent publications
have showed polymorphic sites, haplogroups and haplotypes. Haplogroups could have important
implications to understand association between mutability of the mitochondrial
genome and disease. To assess relationship between mtDNA haplogroups and MS, we
have sequenced the mtDNA HVS-I in 54 MS patients and 100 control subjects. We have
found that haplogroups A and K are significantly more abundant in MS patients (P=0.042
for haplogroup A and P=0.0005 for haplogroup K). Thus, these two haplogroups might
act synergistically to increase the penetrance of MS disease.
