Mitochondrial genome Sequencing of 27 samples (13 RRMS, 4 NMO, 2 ON, 1 My and 7 HC) highlighted the presence of total 414 variants present only in patients. Among them 74 were already classified in literature (and therefore registered with rs number) and 340 were not previously described. Out of 414 variants, 121 were missense (generating an amino-acid exchange), 108 synonymous (variants occurring in coding region but not generating amino-acid exchange) and 185 intronic (occurred in non-coding regions of DNA sequence) variants. The full coverage of mtDNA were amplified using mitoSEQrâ¢ Resequencing Primers Set (RSS000056015_01 mitoALLâ¢, Life Technologies), a system specifically designed and optimized for the amplification of 100% of human mitochondrial genome. This primer set consists 46 primers pairs designed in order to standardize thePolymerase Chain Reaction (PCR) conditions and the following sequence reaction. Compared to previous studies  our strategy unconditionally assessed the whole 16 Kbs of mitochondrial genome; this intensive analysis of our cohorts allowed us to search for genetic variants with a possible biological/clinical impact, present not only in coding genes, but also in non coding, regulatory regions where, as emerging evidence has been reported, variants affecting biological processes may occurs.
Durastanti V, Mitochondrial Genome Profile in Demyelinating Diseases
Last date updated on June, 2014