Question

Question 4: Based on the descriptions in OMIM and the information from the video, indicate what genetic mutation is responsible for the SCA1 disease and what consequence it has on protein primary structure.

Question 5: Which organ and cell type are primarily affected by the mutation? Is this consistent with the symptoms observed in SCA1 patients?

Answer 1

Question 4 : The ATXN1 genetic mutation is responsible for the SCA1 disease which involve a DNA segment known as a CAG trinucleotide repeat. The segment is mainly composed of three series of DNA building blocks such as cytosine, guanine and adenine. These appear multiple times in a row and also the CAG segment is repeated 4 to 39 times within the gene. The SCA1 disease is further characterised by the loss of cerebellar Purkinje cfells and also the neurons with brainstem.

Qestion 5 : The AXTN1 is the genetic mutation in the SCA1 (spinocerebellar ataxia type 1), which is dominantly inherited and a fatal genetic disease which affect the neurons in the cerebellum and brain stem which degenerate over the course of years. Yes, these symptoms are consistent in SCA1 patients. It also include the multigene panel AXTN1 and other genes of the same kind.