Faculty Research

Shirley Rainier, PhD ( srainier@umich.edu )
Research Assistant Professor

Dr. Ranier's research interests include hereditary spastic paraplegia (HSP), a genetically heterogeneous disorder causing progressive weakness and spasticity of the lower extremities. Our laboratory is examining the underlying disease mechanisms in HSP by 1.) Linking and mapping the genes that cause HSP, 2.) Identifying the disease specific mutations, 3.) examining the affects of overexpression of mutant HSP genes or reduced expression of normal HSP genes in in vitro neuronal model systems, 4.) Preparing and analyzing mouse models of HSP and 5.) Elucidating the cellular factors that interact with normal and mutant HSP genes. Combining these experimental approaches will provide insight into the causes and ultimately treatments for HSP and other motor neuron diseases including amyotrophic lateral sclerosis. Paroxysmal dystonic choreoathetosis (PDC) is characterized by attacks of involuntary movements that occur at rest spontaneously and following caffeine or alcohol consumption. We linked this disorder to a region of 2q33-35 and recently discovered the gene that when mutated causes this disorder, myofibrillogenesis regulator 1. Our laboratory is examining the localization and function of this gene in order to elucidate the underlying disease mechanisms in PDC.

Representative Publications

Rainier S, Chai J-H, Tokarz D, Nicholls RD, Fink JK. NIPA1 gene mutations cause hereditary spastic paraplegia (SPG6). The American Journal of Human Genetics, 2003 Oct;73(4):967-71.

Rainier S, Thomas D, Tokarz D, Ming L, Bui M, Plein E, Zhao XP, Lemons R, Delaney C, Alvarado D and Fink JK, Myofibrillogenesis regulator 1 (MR-1) gene mutations cause paroxysmal dystonia choreoathetosis. Arch Neurology, 2004, 61(7):1025-9.