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Foundation grant to fund research of mitochondrial DNA damage

Yidong Bai, Ph.D., assistant professor of cellular and structural biology at The University of Texas Health Science Center at San Antonio, today was awarded a $66,000 research grant by the United Mitochondrial Disease Foundation (UMDF). Dr. Bai studies a gene, isolated from yeast, that one day might be used to reverse defects in human mitochondrial DNA.

DNA, short for deoxyribonucleic acid, is the genetic blueprint of life. It is found in the nucleus of cells but also in the mitochondria, which are cellular energy chambers outside the nucleus. These are the power plants where nutrients from food are converted to energy to fuel the body's processes. "Defects in the mitochondrial DNA underlie a wide range of disorders and processes, from diabetes and aging to Parkinson's disease," Dr. Bai said.

Georgette H. Demes, director of development and programs for the UMDF national office in Pittsburgh, Pa., presented the grant award to Dr. Bai. "Mitochondrial disease is a family of incurable metabolic disorders whose documented incidence is 1 in 4,000 but due to misdiagnosis is likely to be 1 in 1,000," she said.

The UMDF is a national non-profit organization dedicated to promoting research toward a cure and providing networking support to affected individuals and families. "This is a relatively young research field," Dr. Demes said.

Dr. Bai seeks to determine whether the yeast NDI1 gene can rescue mitochondrial function in cells carrying a mutation that causes Leber's hereditary optic neuropathy. The various forms of Leber's often lead to blindness in humans. "This research is innovative and very relevant to the future treatment of mitochondrial disease," commented a member of the UMDF grant review committee.

Today's announcement included members of two San Antonio families with children affected by mitochondrial disease. Miguel and Sylvia Arcos, parents of 8-year-old Vicente Arcos, waited 3 1/2 years for a diagnosis. "Vicente was born 6 weeks early, and after we brought him home, my wife noticed he would stare off into space and shake. We thought these were seizures, possibly," Miguel Arcos said. After moving to San Antonio in 1996, they found Celia Kaye, M.D., Ph.D., chair of pediatrics at the Health Science Center and now vice dean in the School of Medicine. She reviewed Vicente's case and helped the family obtain an accurate diagnosis: mitochondrial myopathy. The disease affects the energy metabolism in each of Vicente's cells. "We watch the heat and cold with him, and he tires and sweats quickly," Miguel said.

The United Mitochondrial Disease Foundation was established in 1995. This year alone, the Foundation has awarded $250,000 in research grants. The UMDF is in a five-year, $5.25 million research initiative, Dr. Demes said.

A native of China, Dr. Bai received his Ph.D. from Columbia University in 1996 and completed his post-doctoral fellowship at the California Institute of Technology. He joined the cellular and structural biology faculty of the Health Science Center in 2001.

Note: The families may be interviewed by calling (210) 567-2570.

Contact: Will Sansom