NIA grants Marciniak $1.5 million to further Werner’s syndrome studies

San Antonio (July 16, 2007) – Researchers at The University of Texas Health Science Center at San Antonio will expand their studies of a protein mutated in the rapid-aging disorder Werner’s syndrome, thanks to a $1.5 million grant from the National Institute on Aging (NIA).
Some individuals with Werner’s look elderly by the time they reach 40.

Principal investigator Robert A. Marciniak, M.D., Ph.D., seeks to determine whether the Werner’s syndrome (WS) protein fails to protect the ends of chromosomes, which are the 23 pairs of X-shaped coils of DNA found in cells. In the absence of a properly working WS protein, it is possible that oxidative stress more quickly damages these regions, which are called telomeres. Telomeres are composed of repetitive DNA sequences that help maintain genetic stability.

“The overall aim of this project is to use molecular analysis of the Werner’s syndrome protein to better understand the aging process in the normal human population,” Dr. Marciniak said. “This syndrome is exceedingly rare, with perhaps a thousand cases reported worldwide over the past several decades. But its unusual effects, coupled with revolutionary advances in genetics, make possible intriguing research of the underlying processes of aging. Mutations in a single gene give rise to the syndrome’s clinical profile.”


Dr. Marciniak, who received his training at Harvard and MIT, is particularly interested in geriatric oncology. He is a research member of the Sam and Ann Barshop Institute for Longevity and Aging Studies and the San Antonio Cancer Institute, both of which support interdisciplinary research of large numbers of Health Science Center faculty.
He is an assistant professor in the department of medicine, with a cross-appointment in the department of cellular and structural biology.
Children affected by Werner’s syndrome usually grow normally until puberty, when the first sign of trouble may be diminished stature resulting from the lack of a teenage growth spurt. Later, in their twenties and thirties, affected individuals may exhibit hair loss, gray hair and cataracts. These individuals are at high risk for cancer, atherosclerosis and diabetes.


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The University of Texas Health Science Center at San Antonio is the leading research institution in South Texas and one of the major health sciences universities in the world. With an operating budget of $536 million, the Health Science Center is the chief catalyst for the $14.3 billion biosciences and health care sector in San Antonio’s economy. The Health Science Center has had an estimated $35 billion impact on the region since inception and has expanded to six campuses in San Antonio, Laredo, Harlingen and Edinburg. More than 22,000 graduates (physicians, dentists, nurses, scientists and allied health professionals) serve in their fields, including many in Texas. Health Science Center faculty are international leaders in cancer, cardiovascular disease, diabetes, aging, stroke prevention, kidney disease, orthopaedics, research imaging, transplant surgery, psychiatry and clinical neurosciences, pain management, genetics, nursing, allied health, dentistry and many other fields.

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