Center Promotes Understanding of FA Genetics

Bronya Keats

When Keith Andrus started having balance problems in third grade, his mother, Raychel Bartek, never suspected FA or any other neurological disease. She'd recently been through a divorce and thought at first that Keith was acting out to get attention.

But when tests revealed that Keith had FA, she sprang into action. She began reading scientific literature about FA and talking to experts, and found out that the disease is unusually common in parts of Louisiana, where she's originally from. She and her second husband, Ron Bartek, saw an opportunity to help not just Keith but other people with FA. The family lives in Annandale, Va.

Since 1976, Raychel has worked for Rep. Billy Tauzin, who represents Southern Louisiana; Ron is a lobbyist. With Tauzin's help, they secured a grant from the Health Resources and Services Administration (HRSA), a federal agency, to establish the Center for Acadiana Genetics — an institute at Louisiana State University Health Sciences Center in New Orleans that raises awareness about FA and other genetic disorders prevalent in Southern Louisiana.

Acadian refers to the French-Canadian ancestors of the Cajun population, who immigrated to Southern Louisiana in the mid-1700s when the British took over Canada. Among Cajuns, the incidence of FA is about 2.5 times higher than that in the general population. Usher syndrome (which causes progressive loss of hearing and vision), cancer and diabetes are also common among Cajuns.

The Center for Acadiana Genetics holds educational conferences in Acadian communities, says center director Bronya Keats, a professor at LSU and a former MDA grantee. Recent conferences had "break-out sessions so that people could go into a room in small groups and feel comfortable asking questions of physicians, researchers and health care professionals," Keats says. There were also geneticists on hand to answer questions.

FA is autosomal recessive, meaning it takes two defective copies of the frataxin gene — one inherited from each parent — to cause the disease. The most common type of mutation in the frataxin gene is called a trinucleotide repeat expansion: Normally, the frataxin gene contains seven to 22 repeats of the three-letter chemical phrase GAA, but in people with FA, it can contain hundreds to thousands of GAA repeats. In most people with FA, both copies of the frataxin gene contain these "expanded" repeats; in some, just one copy of the gene is expanded and the other contains a single-letter change.

Keats says that in the general population, about one in 100 people are FA carriers (people who have only one defective copy of frataxin), but in the Acadian population, about one in 70 are FA carriers. The center offers genetic testing for FA, but its main focus is on public health education, she says.

The center doesn't do research, but Keats believes that in the process of teaching the Acadian people about FA, scientists might gain new insights into the disease. "We know that with Friedreich's, the genetic defect is not specific to Acadians. Throughout the world, the majority of people who have Friedreich's have an expanded repeat in the frataxin gene," she says. "So, anything that we discover here will be relevant to FA in general."