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UF receives $1 million from Keck Foundation to study mechanisms of inherited disease
Date:4/13/2012

The Center for NeuroGenetics at the University of Florida has received a competitive $1 million grant from the W.M. Keck Foundation to study a new idea that challenges conventional understanding of how proteins in cells are made, and their impact on inherited diseases.

Scientists have long understood the role of messenger RNA, known as mRNA, in translating instructions from DNA to make protein. Inherited diseases are caused by faulty genetic instructions, but a study led by Laura Ranum, Ph.D., director of the Center for NeuroGenetics and a professor of molecular genetics and microbiology, has introduced a new twist to the plot.

"Our research disputes the conventional dogma about what causes proteins to be expressed within cells and why," said Ranum, whose original study was done while she was at the University of Minnesota. "We discovered that proteins can be made across some repetitive disease-causing mutations in the absence of 'green light' or 'start' signals, previously thought to be required. This discovery has the potential to change the course of scientific investigation on human disease because we may have been grossly underestimating the number of proteins cells express."

Ranum specializes in the study of myotonic dystrophy the most common form of muscular dystrophy in adults and ataxia, a rare brain disease that robs people of their coordination and motor control. She and colleagues set out to study how proteins are made and to dig for the disease-causing genes hidden within the human genome.

A lot of DNA is made up of repetitive sequences, called genomic stuttering, said Maurice Swanson, Ph.D., the associate director of the center and a professor of molecular genetics and microbiology at the UF College of Medicine. Fifty percent of human DNA is made up of repetitive sequences, which historically have been dismissed as unimportant information, he said.

"The discovery that unusual, potentially harmful pro
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Contact: Karen Dooley
dooleyk@ufl.edu
352-273-5865
University of Florida
Source:Eurekalert

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