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FAU researcher gets NIH grant for work on

Dale King News - Boca Raton

Monday, 25 May 2009

A Florida Atlantic University researcher has received a grant from the National Institutes of Health (NIH) to further her work on the molecular mechanisms of Huntington's disease (HD).

Dr. Jianning Wei, assistant professor of biomedical sciences in the Charles E. Schmidt College of Biomedical Science at FAU, has focused on the disease named after American physician George Huntington.

HD, she said, is a highly complex genetic, neurological disorder that causes certain nerve cells in the brain to waste away. The disease, characterized by a selective loss of neurons in the brain, affects the basal ganglia, which controls motor control, cognition, learning and emotions.

She said it also affects the outer surface of the brain, or the cortex which controls thought, perception, and memory.

"The underlying molecular mechanism of HD remains elusive,'' said Wei. ``We hope that the information we obtain from our studies will improve the current understanding of the molecular pathways that are altered in response to mutant huntingtin or mHtt."

Identify Pathways

Wei and her colleagues are working to identify the pathways in the brain that are altered in response to mutant proteins, as well as to understand the cellular processes impacted by the disease in order to facilitate the development of effective pharmacological interventions.

HD is a fatal, inherited disease caused by abnormal repeats of a small segment in an individual's DNA, or genetic code. The production of malfunctioning proteins in the body are results of these mutations, and the more it is repeated, the worse the disease.

A person who has the disease carries one normal of the gene and one mutated in his or her cells. These abnormal repeats also are involved in several other neurodegenerative diseases.

Although the mutated forms of these genes are known for their devastating effects, their normal forms are critical for nerve function, embryonic development and other bodily processes.

Wei's findings may also represent a universal mechanism in the pathogenesis of neurodegenerative diseases involved with protein misfolding and aggregation (a phenomenon that occurs in many highly debilitating disorders including neurodegenerative diseases).

Preliminary data from their findings using an in vitro cell model of HD suggest that there is a novel mechanism for mHtt-induced cell death, or apoptosis. Apoptosis has been proposed as one of the mechanisms leading to neuronal death in HD.

Mouse Model

With this NIH grant, Wei and her colleagues will be testing their hypothesis in a mouse model of HD. Although recent studies provide important clues, precisely how mHtt triggers apoptosis still remains unclear.

She said HD can be traced back as far as the Middle Ages and one of the earlier names for the disease was ``chorea'' as in ``choreography'' and is the Greek word for dance, describing how people affected with the disorder constantly twist and turn in an uncontrollable dance-like motion.

People are born with the single defective gene that produces HD and symptoms don't appear until middle age. In addition to uncontrolled movements, neurological degeneration also causes loss of intellectual faculties and emotional disturbance. As the disease progresses, HD can affect a person's ability to walk, talk and swallow.

Today, some 30,000 Americans are living with HD. In addition, another 200,000 are at risk.

Physicians may prescribe a number of medications to help control emotional and movement problems associated with HD, but there is no treatment to stop or reverse the course of the disease.