A New Discovery In Genetic Mutation

By Staff

Wednesday, July 29, 2009, 13:41

Scientists from University of Utah have identified a genetic mutation linked to hereditary form of a rare neuroendocrine tumour called (P.G.L.).

According to the researchers, the gene, called hSDH5, is required for activation of an enzyme complex that plays a critical role in the chemical reactions that take place within cells to convert biochemical energy into usable energy. Dr. Jared Rutter, the lead author of the study explains, "Defects in mitochondria, the power sources of the cell, have been implicated in a variety of human disorders, including cancer."

The study, however, involved the use of yeast Saccharomyces cerevisiae, in order to study mitochondrial functions, before going back to humans and determining whether the same had relevance with humans too. Then came the results: They first characterized a mitochondrial protein called Sdh5 in yeast and then moved on to study its potential role in human disease.

This was not the end. Rutter and his colleagues discovered that, in yeast, the Sdh5 protein is needed for the S.D.H. complex to function normally. "The amino acid sequence of yeast Sdh5," said the man "Is 44 percent identical to its human counterpart, which we've named hSDH5." He adds:"Previous genetic studies have shown that the hereditary s PGL1, PGL3, and PGL4 are associated with mutations causing loss of S.D.H. Activity." He concludes: "Although the gene for PGL2 had not been identified, we knew that it was located on the same chromosome as the hSDH5 gene."

Rutter and his colleagues sequenced the hSDH5 gene in three individuals with PGL2. Of the 45 individuals within the affected lineage who inherited the mutation, 33 have developed PGL2, providing strong evidence that hSDH5 is the PGL2 gene.

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