Polymorphism, Heteroplasmy, Mitochondrial Fusion and Diabetes View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2003-10

AUTHORS

Aya Sato, Hitoshi Endo, Kazuo Umetsu, Hideyuki Sone, Yoshiko Yanagisawa, Azusa Saigusa, Sayuri Aita, Yasuo Kagawa

ABSTRACT

Mitochondrial DNA (mtDNA) is highly susceptible to mutations that result in polymorphisms and diseases including diabetes. We analyzed heteroplasmy, polymorphisms related to diabetes, and complementation by fusogenic proteins. Cytoplast fusion and microinjection allow, defects in mutated mtDNA inside a heteroplasmic cell to be complemented by fusing two mitochondria via human fusogenic proteins. We characterized three hfzos as well as two OPA1s that prevent apoptosis. Two coiled coil domains and GTPase domains in these fusogenic proteins regulate membrane fusion. The hfzo genes were expressed mainly in the brain and in muscle that are postmitotic, but not in the pancreas. Under the in.uence of polymorphisms of mtDNA and nDNA, the vicious circle of reactive oxygen species and mutations in cell can be alleviated by mitochondrial fusion. More... »

PAGES

313-337

References to SciGraph publications

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1023/b:bire.0000019189.35983.b9

    DOI

    http://dx.doi.org/10.1023/b:bire.0000019189.35983.b9

    DIMENSIONS

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    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/15074546


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