Research Grant Award

Guo-Yun Yu, PhD

University of Minnesota
Genetic and molecular characterization of SCA 26

Up to 25 distinct genetic subtypes have been identified for the spinocerebellar ataxias (SCA), and more remain unidentified. How could different genetic lesions cause the same or similar symptoms shared by all SCAs, namely tissue-specific neuron death and cerebellar atrophy? Recently findings suggest there are some common biochemical pathways involved in the disease process. Identification of additional SCA genetic lesions may further define these common pathways, which may lead to discovery of drug targets for therapy development. We recently identified and located two new SCAs, an ataxia-azoospermia syndrome on chromosome 18 and a pure ataxia, SCA26, on chromosome 19. We propose to identify and characterize the specific genes and mutations causing SCA26. This study will contribute to the efforts of defining the pathways, and provide valuable knowledge about tissue selection of SCAs. In addition, patients will directly benefit from the availability of accurate molecular diagnosis and genetic counseling.