Differential Proteome Analysis in LIMB Girdle Muscular Dystrophy 2A

Abstract

Background & Objectives: LGMD2A is an autosomal recessive disorder characterized by symmetrical and selective weakness of pelvic, scapular, and trunk muscles, resulting in progressive proximal skeletal muscle wasting. It has been found that LGMD2A is caused by mutation in the gene encoding for calpain-3 resulting in total or partial loss of protein. However, the proteins associated with calpain-3 are not identified. Therefore, our research is focused on identification of proteins which are differentially expressed in LGMD2A. Methods: Gel based proteomic approach is employed with the novel samples of a family suffering from this disorder (3 carriers and 3 affected individuals out of the 6 siblings). We have done SDS-PAGE of serum samples to find differential expressed proteins of samples (normal, carrier and diseased individuals of a single undivided family) and further strengthening the results through mass spectrometry. 2D gel electrophoresis is also used for normal and patient sample comparison to see more clear difference in the serum profiles. Results: The serum SDS-PAGE profiles of the samples showed significant difference in pattern of expression of LAC2_HUMAN, HPT HUMAN, Arylamine N- acetyl transferase proteins. To further determine the differentially expressed protein 2D-PAGE was performed which revealed the incidence of some hypothetical proteins like IGLC HUMAN and APCS.