Genetics of movement disorders
SpinoCerebellar Ataxias, Dystonia
We are studying the genetic background and underlying biological pathways of movment disorders, including SpinoCerebellar Ataxia (SCA) and dystonia. Using genome-wide linkage analysis and shared haplotype analysis in ataxia families and patients, we are trying to localize and identify novel SCA genes. We are also using cell model systems to learn about some of the biological routes that lead to SCA disease.
SpinoCerebellar ataxia is a rare (1-3:100,000) family member of the better known Huntington’s disease. SCA patients suffer from a progressive cerebellar ataxic syndrome, which includes affected coordination of the limbs, speech problems, eye abnormalities and sometimes cognitive impairment. These symptoms are the result of loss of neuronal cells in the cerebellum. The age of onset of these neurodegenerative disorders is after midlife. Interestingly, variability is seen in the age of onset in patients with identical SCA mutations, and even within one family. This suggest that additional genetic and environmental factors are involved which modify the age of onset. We aim to unravel which biological processes regulate and modify the age of onset in large Dutch SCA3 families and patients.
To date 14 SCA genes have been identified and at least 15 more SCA loci have been found. But still 30% of the ataxia patients cannot be assigned to one of the known SCA types. Using different genetic strategies, such as linkage analysis, and shared haplotype analysis in families using high-density SNP bead arrays (Illumina), we are trying to localize and identify novel SCA genes. We are currently looking for SCA23 and SCA19 genes.
We also aim to unravel the pathological process that underlie different SCA types by using different in vitro approaches, such as protein-protein interaction and cell studies. At the moment, we are focussing on the impact of SCA14 mutations on the protein folding and function of the protein PKC g.
23 Sept 2013: Justyna Jezierska was awarded a PhD for her thesis on "The genetic and molecular mechanisms underlying spinocerebellar ataxias" , University of Groningen.
For all three research lines, we are always looking for enthusiastic biomedical/HLO students who would like to perform an internship of at least 6 months in our research group. For more information please contact: Dr. Dineke Verbeek
Department of Genetics
UMCG, P.O. Box 30001 , 9700 RB Groningen, the Netherlands
Telephone: + 31 6 52724553
|Laatst gewijzigd:||11 mei 2015 16:28|