Date of Award
Master of Science in Bioinformatics - (M.S.)
Usman W. Roshan
Spinal Muscular Atrophy (SMA) involves the loss of nerve cells called motor neurons in the spinal cord and is classified as a motor neuron disease, it affects 1 in 5000-10000 newborns, one of the leading genetic causes of infant death in USA. Mutations in the SMN1, UBA1, DYNC1H1 and VAPB genes cause spinal muscular atrophy. Extra copies of the SMN2 gene modify the severity of spinal muscular atrophy. Mutations in SMN1 (Motor Neuron 1) mainly causes SMA (Autosomal recessive inheritance). SMN1 gene mutations lead to a shortage of the SMN protein and SMN protein forms SMN complex which take part in snRNP biogenesis and pre-mRNA splicing. Without SMN protein, motor neurons die, and nerve impulses are not passed between the brain and muscles. As a result, some muscles cannot perform their normal functions, leading to weakness and impaired movement. In this research, we used SMA model mice (LL samples and Sever samples) to identify de novo mutations and modifiers operating in SMA model mice.
Xu, Weiting, "Identifying modifier genes in SMA model mice" (2015). Theses. 249.