The Johns Hopkins Gazette: October 28, 2002 October 28, 2002
VOL. 32, NO. 9   Novel Gene Mutation Provides Window Into How
Brain Cells Die  By Trent Stockton Johns Hopkins Medicine Johns
Hopkins Gazette Online Edition  Researchers at Johns Hopkins
have discovered a gene mutation that causes a condition
apparently identical to Huntington's disease, helping to explain
why some people with the disorder do not have the mutation found
in most cases. The finding may help reveal why some diseases,
like Huntington's, Alzheimer's and Parkinson's, destroy some
brain cells while sparing others.  "For all practical purposes
this is Huntington's disease, yet it's caused by a different
mutation on a completely different chromosome," says Russell L.
Margolis, associate professor of psychiatry in the School of
Medicine and director of the Laboratory of Genetic Neurobiology.
The new mutation is in a gene called junctophilin-3 on
chromosome 16, and the disorder it causes is called Huntington's
disease-like 2, or HDL2. The mut