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Press Release: November 5, 2001

ANN ARBOR, MI - SBI Science was instrumental in the discovery and analysis of a novel gene that causes a childhood form of hereditary spastic paraplegia (HSP) performed in the laboratory of Dr. John Fink at the University of Michigan Medical Center.

Spastic paraplegia is a rare genetic disorder that results in progressive paralysis of the lower extremities. While both juvenile and adult onset forms exist, the current research focuses on the childhood form of the disease.

SBI Science completed key research in delineating the putative structure and probable function of the novel gene termed atlastin. Through structural bioinformatics analyses, SBI Science was able to analyze the amino acid sequence of the protein and identify its probable enzymatic activity and its similarity to the dynamin family of proteins, proteins that have previously been shown to be vital to nerve cell function.

Detailed examination of the putative active site and additional protein domains nevertheless revealed significant differences between atlastin and the dynamin family proteins. These differences undoubtedly underlie the disease specific functions of atlastin.

The homology model SBI Science produced aided in the interpretation of disease mutations found in three families suffering from this inherited disease. In the future, this model of the three-dimensional structure of atlastin will guide specific experiments aimed at elucidating the precise role this key protein plays in this disease.

This research has the potential to facilitate the production of key diagnostic tests, and to facilitate the design of novel treatments for HSP. These results may have implications for other diseases and injuries involving the spinal cord, such as Lou Gehrig’s disease.

This research appeared in the November 2001 issue of Nature Genetics (Zhao et al.) and is currently available online at www.nature.com.