Name of Fellow

    Euro Liliya



    Academy of Finland

    Contact information of fellow



    Title of project/programme

    Molecular mechanisms of neurodegeneration caused by mitochondrial disfunction

    Source of funding information

    Academy of Finland

    Total sum awarded (Euro)

    € 311,037

    Start date of award


    Total duration of award in years


    The project/programme is most relevant to:

    Neurodegenerative disease in general


    Neurodegeneration | mitochondria | fibroblast growth factor 21 | mitochondrial DNA polymerase gamma | single-stranded DNA-binding proteins | tumor suppressor p53 | mitochondrial recessive ataxia syndrome | infantile onset spinocerebellar ataxia

    Research Abstract

    This study focuses on two severe mitochondrial neurodegenerative disorders – mitochondrial recessive ataxia syndrome, MIRAS, and infantile onset spinnocerebellar ataxia (IOSCA). These diseases are the most common ataxias in Finland. MIRAS is caused by recessive mutation in mitochondrial DNA polymerase gamma (POLG), while IOSCA by recessive mutation in mitochondrial helicase Twinkle. Symptoms of these diseases are very similar except that IOSCA manifests very early in life starting from 9-18 months after birth. The reasons why these mutations cause such severe phenotypes is unclear and this study seeks to answer this question. To date, no effective treatments exist for mitochondrial neurodegeneration. The second aim of this study is to use employ endocrine pathway for physiological regulation of mitochondrial neurodegeneration. This multidisciplinary study recruits a variable set of tools involving protein chemistry, animal models for MIRAS and IOSCA and disease-relevant cell cultures.

Types: Fellowships
Member States: Finland
Diseases: Neurodegenerative disease in general
Years: 2016
Database Categories: N/A
Database Tags: N/A

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