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Papel de los haplogrupos de ADN mitocondrial en el desarrollo de la artrosis. Influencia de la selección climática.

INTRODUCTION: 1. There are several evidences that demonstrate the role of mitochondria in the osteoarthritic process 2. Cells with high levels of mutations showe anomalies in the mitochondrial respiratory chain. 3. The mtDNA shows, in the coding region, a stable set of polymorphic sites called haplogroups, which have been shaped by episodes of the various ice ages that have taken place over the course of evolution. 4. It has been shown that some of mtDNA haplogroups predispose or protect against some degenerative diseases such as Parkinson’s or Alzheimer’s. In osteoarthritis (OA) this possible influence is still unknown.
ASSUMPTIONS: Polymorphisms in mitochondrial DNA (haplogroups) are associated with the development of OA
METHODOLOGY: Blood samples from healthy (without OA) donors and OA donors will be obtained.The DNA will be isolated and amplified with several pairs of specific primers corresponding to the different fragments containing the polymorphisms that identify the mtDNA haplogroups. The different haplogroups will be allocated through the combination of both Single Base Extension (SBE) and PCR-RFLP assays.
STUDY POPULATION: Patients with OA and healthy controls of three stocks: Spain, Canary Islands and Mexico (with European descent). Sample size 500 patients with OA and 300 healthy controls, each of the three geographic locations.

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