SIR Biology Investigation Abstract
ASSOCIATION STUDY OF POLIOVIRUS RECEPTOR GENE POLYMORPHISMS IN SPORADIC ALS
Presenter:
Thomas J. Mullins, Illinois Mathematics and Science Academy, 1500 W. Sullivan Road, Aurora, IL 60506
Mentor:
Dr. Saeed Khan, Feinberg School of Medicine
Abstract:
Amyotrophic Lateral Sclerosis (ALS) is a progressive, degenerative disease of the nervous system. It is one of a group of diseases, called motor neuron diseases, in which specialized nerve cells that control movement of the voluntary muscles gradually cease functioning and die. The specific aims of my research were first and foremost to verify whether the poliovirus receptor gene polymorphisms, which are hypothesized to be concealing one of the disease causing mutations, are associated with sporadic ALS through the use of multiple single nucleotide polymorphisms (SNPs) to search for an indication of an inherited allele that is enriched in affected individuals. The second aim of my research was to understand the genetic background of ALS and the tools available to tease out the genetic architecture of a complex disorder such as ALS. Two different models were used to study the genetic material in this experiment. The most simple and widely practiced model of association is the case-control study, where we had 192 individuals who had been diagnosed with ALS and 192 unrelated subjects with no history of neurological disease. The second model was family based, where population stratification is irrelevant, and 128 trios, comprising 384 samples of mother, father, and an infected offspring were studied.