Courtney Jones, Biochemistry and Chemistry
“Mutation detection: Pantothenate Kinase Associated Neurodegeneration.”
Pantothenate Kinase-associated neurodegeneration (PKAN) is a rare, neurological movement disorder that is characterized by the progressive degeneration of the nervous system. Symptoms vary and include distorting muscle spasms, progressive confusion and dementia. PKAN is an autosomal recessive disease that can result from a number of different mutations including missense, nonsense and deletion mutatino. PKAN is caused by mutation in the pantothenate kinase gene 2 (PANK2). Classical PKAN develops during childhood, usually within the first decade of life. Atypical PKAN develops during the second decade of life and these patients usually have an amino acid change associated with missense mutation. This study is conducted to identify the mutation in the student investigator’s family line and to sequence the DNA, which will be determined using ABI310capillary electrophoresis gene analyzer. If the mutation is identified, a test for the mutation in PKAN2 can be developed.
