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Scientists pinpoint inflammation gene

ry investigations to discover the function of the SEPS1 gene and this particular variant.

"These experiments showed that this genetic variation affects how the cell responds to stress," Curran said. "The more common variant the one most people have is the 'good form' of SEPS1 that is more efficient at perceiving and responding to cellular stress. The alternative, rarer variant weakens SEPS1 and puts it at a disadvantage in dealing with cellular stress."

Blangero explained, "Basically, this rarer form of SEPS1 gives you a lazy cellular 'garbage truck' that doesn't properly do its job of clearing out the misfolded proteins that lead to inflammation."

As further confirmation of their study results with the Wisconsin population, the researchers looked to see if they would replicate their findings in a distinct group of Texas families. A team of SFBR scientists led by Dr. Jean MacCluer is conducting a long-term, National Institutes of Health-sponsored study on the genetics of heart disease, diabetes and obesity in 1,400 Mexican Americans from 90 San Antonio families.

Researchers studied an additional 500 individuals from 20 families of this San Antonio Family Heart Study and performed the same genetic analysis that was previously done with the Wisconsin families. "Once again, we obtained the same results," said Blangero. "We replicated our findings in another study with a different population of a different ethnic group, which is rare in human genetics. This adds to other clear evidence that SEPS1 is a good target in defeating inflammation, which plays an important role in virtually every disease of major public health importance."


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Source:Medical College of Wisconsin


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