In 1998 researchers localized a human gene that caused familial partial lipodystrophy, called Dunnigan type (FPLD). In 2002 a mutation - PPAR - was linked to another type of familial partial lipodystrophy. In 2002 the mutated gene, AGPAT2, linked to congenital generalized lipodystrophy, was identified. In 2002 researchers, in collaboration with researchers with the National Institutes of Health, reported that replacing the protein leptin drastically reduced triglyceride levels and controlled diabetes in patients with generalized lipodystrophies. In 2003 a novel gene, ZMPSTE24, linked to generalized loss of body fat and skeletal disorders, was identified.
There are two categories of lipodystrophies: acquired and inherited. Acquired lipodystrophy in HIV-infected patients is, by far, the most prevalent type, affecting more than 100,000 Americans, said Dr. Garg.
Dr. Garg and his collaborators are currently evaluating three low-risk therapeutic measures in HIV-infected patients with lipodystrophies to lower cholesterol levels and improve insulin resistance.
Dr. Garg has also studied more than 200 families with various types of inherited lipodystrophies and hundreds of patients with HIV who have developed this condition.
"Our hope is to learn more about the metabolic processes of the fat cell," Dr. Garg said. "As new pathways are discovered, we will likely be able to find the connection between fat cell abnormalities and the metabolic complications associated with these disorders."