Years-Long Search Unlocks Deadly Genet...(s that both mothers and fathers have to ...),Health

Date:1/10/2008

s that both mothers and fathers have to be carriers [of the gene that causes the disease]," Messer said. "We started scratching our heads. What are the odds that all of us would have married somebody with the same recessive gene and our two mothers and our grandmother? I don't calculate odds very well, but I can tell that that's just a staggering amount."

At about this time, another cousin, Patti, living in Houston, married and wanted to have children but was terrified after watching the devastation of her family. She sought genetic counseling.

Enter Lisa Baumbach-Reardon, associate research professor of pediatrics and neurology at the University of Miami Miller School of Medicine, who was already researching a similar family in South Carolina.

Baumbach-Reardon would spend 15 years searching for the genetic root of these family tragedies.

"We started investigating and found all these other families, and then we spent many years trying to map the gene where it was on the X chromosome, and we were very sure about where it was, but we had no great breakthroughs or clues," Baumbach-Reardon recalled. "It was probably the biggest scientific experience of my career, and many times we were told to give up, but we didn't give up, because we knew in the end what we were working on was this terrible disease."

This week, Baumbach-Reardon and her colleagues published the results of their quest in The American Journal of Human Genetics. A gene known as UBE1 is the cause of this rare, X-linked form of SMA. The gene lies at the top of a major biological pathway, the same pathway that has been implicated in Parkinson's and other neurodegenerative disorders.

"It's the beginning of a pathway. If that doesn't work in the beginning, then nothing else works," Baumbach-Reardon explained.

Tragically, all six women in Ann Messer's generation were carriers of the mutation -- a mutation that was enough to cause
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