Functional Verification of Potential Pathogenicity of Human Mitochondrial DNA View Homepage


Ontology type: schema:MonetaryGrant     


Grant Info

YEARS

2011-2015

FUNDING AMOUNT

600000 CNY

ABSTRACT

In the process of migration and settlement of modern human ancestors to all parts of the world, mtDNA accumulated in different continents, and the population-specific mtDNA genetic background (ie haplotype group) was formed. The study found that these mtDNA genetic background can affect the disease, as we recently found that M7b1'2 and M8a affect the clinical mutation of human LHON primary mutation (Am J Hum Genet 2008). This phenomenon, which is influenced by the ancient variation of mtDNA genetic background, is consistent with the ancestral-susceptibility model, but no functional experiments have been confirmed. In this study, we used the allotopic expression method to analyze the ancient variation of mtDNA genetic background in East Asian population, and to analyze the potential mutations in tumor tissue as a control, and analyze the ancient variation from cell level On the cell and mitochondrial metabolic function, and then explore the potential function of the ancient variation accumulated in these evolutionary processes, and explain the effect of mtDNA genetic background on cell function. More... »

URL

http://npd.nsfc.gov.cn/projectDetail.action?pid=31171225

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