Poster (download)
177Georgii Ozhegov1, Dmitry Poverin2, Sergey Medvedev3, Suren Zakian4, Yuri Vyatkin5, Sergey Postovalov6
1Kazan Federal University, Kazan, Russia; Novel Software Systems, Ltd., Novosibirsk, Russia, georgii_provisor@mail.ru
2Novosibirsk State Technical University, Novosibirsk, Russia, foxlandg@gmail.com
3Federal Research Center Institute of Cytology and Genetics, Novosibirsk, Russia, medvedev@bionet.nsc.ru
4Federal Research Center Institute of Cytology and Genetics, Novosibirsk, Russia, zakian@bionet.nsc.ru
5Novosibirsk State University, Novosibirsk, Russia; Novel Software Systems, Ltd., Novosibirsk, Russia, yuri@nprog.ru
6Novosibirsk State Technical University, Novosibirsk, Russia; Novosibirsk State University, Novosibirsk, Russia, postovalovsn@gmail.com
Whole exomes for a set of patients with Parkinson’s disease (PD) were sequenced to conduct a genome-wide association study (GWAS) using MAX3 test to find novel genomic variants associated with the disease. As a result, several new variants were identified.
Looks quite very interesting… I have a few questions. The first question is how correct is it to use the germline cells to look for the SNPs associated with neurogenerative diseases like Parkinson’s disease? The second is where are SNPs that you found as associated with PD located inside KCNJ12 (introns, exons or promoter, I mean)? And could you say that “the change of KCNJ12 protein could be involved in PD…” means?
Thanks for interesting qustions!
We used blood to extract DNA from it, cause it easy to find some first signs. It will be better to used subsantia nigra tissue, but we will take only “post mortem”. So we don’t have opportunities nowadays to find somatic SNPs exactly in brain tissues. Beside this progression of PD starts for decades before first clinical trail and peoples with PD-diagnosis very often has family history. Thats why we check germline SNPs first.
All 3 SNPs marked as probably associated with PD were missense and located in exons.
“the change of KCNJ12 protein could be involved in PD…” means that we found some literature, that make some connection between KCNJ12 and PD. Also KCNJ12 have expression in brain tissuies. And alteration in potassium canals could be involved in neural cells death.
Oh, I see. Thank you for the answers!
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