Genetic Basis of Neurodegenerative Disorders

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Identification of genetic causes underlying movement disorders

The identification of molecular factors underlying neurodegenerative disorders such as Alzheimer’s disease (AD), Parkinson’s disease (PD), amyotrophic lateral sclerosis (ALS), essential tremor (ETM) and spinocerebellar ataxia (SCA) is crucial for the development of novel diagnostic and therapeutic approaches. Next generation sequencing techniques and genome-wide association studies are vital experimental methods for such efforts. Our laboratory is working on the identification and characterization of genes responsible for causing hereditary neurological disorders by utilizing  next-generation sequencing techniques and molecular functional studies. MR studies are also used for detect and characterize lesions in affected patients. Our studies are mostly based on Essential Tremor, which is most frequent movement disorder and exhibits a worldwide prevalence of 0.9%, increasing to more than 4% in elderly populations. Our recent whole exome sequencing studies have identified the gene ‘HTRA2’ as a cause of Essential Tremor and Parkinson disease, providing the first clue that links these two common movement disorders.

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Selected publications:

Unal-Gulsuner H, Gulsuner S, Mercan FN, Onat OE, Walsh T, Shahin H, Leeb MK, Dogu O, Kansu T, Topaloglu H, Elibol B, Akbostancı C, King MC, Ozcelik T, Tekinay AB. Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease, PNAS 2014; 111(51): 18285-18290.