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Curs 2012-2013
Mitochondrial DNA (mtDNA), a maternally inherited 16.6-Kb molecule crucial for energy
production, is implicated in numerous human traits and disorders. It has been hypothesized that
the presence of mutations in the mtDNA may contribute to the complex genetic basis of
schizophreniadisease, due to the evidence of maternal inheritance and the presence of
schizophrenia symptoms in patients affected of a mitochondrial disorder related to a mtDNA
mutation. The present project aims to study the association of variants of mitochondrial DNA
(mtDNA), and an increased risk of schizophrenia in a cohort of patients and controls from the
same population. The entire mtDNA of 55 schizophrenia patients with an apparent maternal
transmission of the disease and 38 controls was sequenced by Next Generation Sequencing
(Ion Torrent PGM, Life Technologies) and compared to the reference sequence. The current
method for establishing mtDNA haplotypes is Sanger sequencing, which is laborious, timeconsuming, and expensive. With the emergence of Next Generation Sequencing technologies,
this sequencing process can be much more quickly and cost-efficiently. We have identified 14
variants that have not been previously reported. Two of them were missense variants: MTATP6
p.V113M and MTND5 p.F334L ,and also three variants encoding rRNA and one variant
encoding tRNA. Not significant differences have been found in the number of variants between
the two groups. We found that the sequence alignment algorithm employed to align NGS reads
played a significant role in the analysis of the data and the resulting mtDNA haplotypes. Further
development of the bioinformatics analysis and annotation step would be desirable to facilitate
the application of NGS in mtDNA analysis.
Director/a: Lourdes Martorell Bonet i Tutor/a: M. Luz Calle |
