Title:Proteomic Analysis of Huntington’s Disease
Volume: 21
Issue: 12
Author(s): Shobhit Kumar*, Priyanka Singh, Shrestha Sharma, Javed Ali, Sanjula Baboota and Faheem Hyder Pottoo
Affiliation:
- Department of Pharmaceutical Technology, Meerut Institute of Engineering and Technology (MIET) NH-58, Delhi- Roorkee Highway, Meerut-250005, Uttar Pradesh,India
Keywords:
Electrophoresis, huntington’s disease, mass spectroscopy, western blotting, mutation, proteomics.
Abstract: Huntington’s disease (HD) is a neurodegenerative disease that is genetically inherited
through an autosomal dominant gene located on chromosome 4. HD is caused by DNA mutation
(generally 37 or more repetition of CAG nucleotides) that leads to an excessive stretch of glutamine
residues. However, the main pathogenesis pathway resulted by polyglutamine expansion in
mutant HD is unknown. The characteristics of this disease mostly appear in adults. Patients who
suffer from this disease have shown an inability to control physical movements, emotional
problems, speech disturbance, dementia, loss of thinking ability and death occurs between 15-20
years from the time of symptomatic onset. This review article suggested that investigation of mutation
in the HD gene can be done by proteomic analysis such as mass spectroscopy, gel electrophoresis,
western blotting, chromatographic based technology, and X-ray crystallography. The primary
aim of proteomics is to focus on the molecular changes occurring in HD, there by enhancing the effectiveness
of treatment.
