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Dr. Paul Watkins is a research scientist at the Kennedy Krieger Institute. He is also a Professor of Neurology at the Johns Hopkins University School of Medicine. He has held joint appointments in the Department of Biological Chemistry since 1992 and in the Center for Human Nutrition, Department of International Health, at the Johns Hopkins Bloomberg School of Public Health since 1994.
Biographical Sketch:
Dr. Watkins did his undergraduate, graduate and medical training at Johns Hopkins, receiving an MD and a PhD in biochemistry in 1978. In the years which followed, he served as both a research associate and medical staff fellow at the National Institutes of Health, as well as Commissioned Officer Service for the United States Public Health Service.
Research Summary:
Childhood XALD, which was depicted in the 1992 movie "Lorenzo�s oil," results from destruction of myelin (the insulation around nerve fibers) in the brain. Biochemically, XALD patients are unable to break down fatty substances called very long-chain fatty acids (VLCFA). Because of this impairment, toxic VLCFA accumulate in the brain and other organs. A primary goal of the Watkins laboratory is to understand the biochemical basis of XALD and related genetic diseases. Patients with these diseases all have mental retardation and other significant health problems.
In addition to XALD, VLCFA levels are also high in several other diseases such as the Zellweger Syndrome and Infantile Refsum Disease. In all of these conditions, the biochemical problem lies within peroxisomes, small structures present inside all cells of the body. By investigating the proteins and enzymes required for VLCFA degradation in peroxisomes and how the process is disrupted in disease states, potential therapies may be developed.
In the course of these studies, researchers in the Watkins lab have discovered several new enzymes involved in VLCFA metabolism. While these may not be directly relevant to our understanding of brain disorders, they are important for other organ systems. For example, one enzyme is important in maintaining bile production by the liver, and another is found only in the heart. The lab is currently investigating the biological functions of all these proteins and determining if patients with potential defects can be found among our undiagnosed cases. | 