Scientists have discovered just how a genetic defect disrupts the cellular "garbage disposal" of a cell, resulting in a horrific childhood disease that kills most patients before the age of 25.
For nine years researchers have known the precise genetic flaw that causes Batten disease. But understanding how a straightforward mistake in lifes blueprint translates to a disease that ravages roughly 1,000 children in the United States each year has been a challenge. Now, in a paper in the Dec. 23 issue of the Proceedings of the National Academy of Sciences, a team from the University of Rochester Medical Center lays out the sequence of biochemical steps that results in the disease.
The team led by David A. Pearce, Ph.D., of the Center for Aging and Developmental Biology found that the genetic defect is linked to a protein that regulates the amino acid arginine in and out of a yeast organelle called the vacuole. The vacuole in yeast is much like the lysosome in human cells, slicing and dicing up cellular waste and then disposing or recycling the material. In Batten disease and other lysosomal storage disorders, the lysosomes dont work correctly and cells swell up with gunk that eventually kills them.
Tom Rickey | EurekAlert!
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