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Packard Center for ALS Research at Johns Hopkins

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New Study Casts Doubt on ALS "Progression Gene"

A year ago, a scientific team headed by John Landers at the University of Massachusetts announced finding a variation of a gene that appeared tied to longer survival in the sporadic ALS patients who have it. They live about 14 months longer.

According to their report, patients with a specific version of a possible “progression gene” —it’s called KIFAP3—also produced far less than is usual of the corresponding KIFAP3 protein.

Because good science demands that research be confirmed or replicated by other scientific teams, now a team led by Packard investigator Bryan Traynor reports having done that. The account of their work, reported in the Proceedings of the National Academy of Sciences, refutes the findings of the earlier study.

Traynor is a neurogeneticist with the National Institute on Aging.

The Traynor team studied a group of 504 Italian ALS patients in a national registry, to see if the variation of the KIFAP3 gene conferred longer survival, but they found no effect.

Traynor suspects a main reason the two studies are so different has to do with the sample of patients studied. The earlier study examined mostly patients who attended ALS clinics. The Italian patients, by contrast, were drawn from the population.

But, says Traynor, “longer living patients are more likely to attend an ALS specialty clinic, which in turn means they are more likely to access the …medication riluzole and…therapies that further prolong their survival.”

Population studies, he says, “are more reflective of the true survival pattern of the ALS population.”

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