Mucolipidosis type IV (MLIV) is a pediatric neurodegenerative disease. Patients with this disease are seen to have delayed mental development, psychomotor retardation, hypotonia, speech impairment and retinal degeneration which leads to blindness. MLIV is an autosomal recessive disorder, meaning both parents must carry the mutant allele for the child to have the disease. At a molecular level, the characteristics of this disease are enlarged and hyperacidic lysosomes. The gene that is mutated in MLIV is transient receptor potential mucolipin-1 (TRPML1). TRPML1 is a lysosomal protein that is expressed in tissues and organs and is believed to play a role in balancing the pH of the lysosome and lysosomal maturation.
RNA was extracted and sequenced from mice that were either wild-type (WT) or knock-out (KO) for TRPML1. Differential gene expression analysis of the WT and KO RNA can be performed using Linux-based R commands and computer software such as Tophat and Cufflinks. With the help of Dr. Cuajungco and Dr. Behseta, Silvia is working on creating a Linux-based R command to perform differential gene expression analysis.