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doi:10.1534/genetics.106.063206
A more recent version of this article appeared on November 1, 2006.
REGULAR RESEARCH PAPERS |
Drosophila model of human inherited TPI deficiency glycolytic enzymopathy
Alicia M. Celotto 1, Adam C. Frank 1, Jacquelyn L. Seigle 1 and Michael J. Palladino 1*
1 University of Pittsburgh
* To whom correspondence should be addressed. E-mail: mjp44{at}pitt.edu.
Submitted on July 10, 2006
Revised on August 10, 2006
Accepted on 1 September 2006
Heritable mutations, known as inborn errors of metabolism, cause numerous devastating human diseases, typically as a result of a deficiency in essential metabolic products or the accumulation of toxic intermediates. We have isolated a missense mutation in the Drosophila sugarkill (sgk) gene that causes phenotypes analogous to symptoms of TPI (triosephosphate isomerase) deficiency, a human familial disease, characterized by anaerobic metabolic dysfunction resulting from pathological missense mutations affecting the encoded TPI protein. In Drosophila, the sugarkill (sgk) gene encodes the glycolytic enzyme TPI. Our analysis of sgk mutants revealed TPI impairment associated with reduced longevity, progressive locomotor deficiency and neural degeneration. Biochemical studies demonstrate that mutation of this glycolytic enzyme gene does not result in a bioenergetic deficit, suggesting an alternate cause of enzymopathy associated with TPI impairment.
Key Words: Drosophila, enzymopathy, glycolysis, neurodegeneration, triosephosphate isomerase
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