Rockefeller University Researchers Hunt For Type 2 Diabetes Susceptibility Genes

"We hope that by identifying genes that cause type 2 diabetes we can developbetter diagnostic tools and improved drug therapies, and in the long term, apossible way of preventing this disease," says Assistant Professor MarkusStoffel, M.D., Ph.D., principal investigator of the study and head of theLaboratory of Metabolic Diseases. Stoffel, the university's Robert and HarrietHeilbrunn Professor, is an Irma Hirschl Scholar and a Pew Scholar. He receivedthe Career Development Award in 1997 from the American Diabetes Association.

Genes constitute some of the most important risk factors for type 2 diabetes,although environment also plays a role in the disease. Most common forms ofdiabetes are polygenic, meaning that more than one gene is involved in thedisease, making it difficult to identify the genes responsible. By enrolling alarge number of participants, the study investigators hope to identify as manytype 2 diabetes susceptibility genes as possible.

Type 2 diabetes is caused by ineffective insulin secretion or improper insulinaction on target tissues such as muscle, leading to impaired glucose uptake fromthe blood and increased levels of blood glucose. Type 2 diabetes is the mostcommon form of diabetes, accounting for 90 to 95 percent of cases. In about 5percent of cases, inheritance follows a classic autosomal dominantpattern?anyone in a family who has one copy of the defective gene is likely todevelop hyperglycemia or increased levels of blood glucose?and is characterizedby an early age of onset.. Known as maturity onset-diabetes of the young (MODY),this form of diabetes usually develops before age 25. Stoffel's study focuses onboth early- and late-onset type 2 diabetes.

Diabetes, one of the world's most common inherited diseases, occurs in about 3out of every 100 people. An estimated 16 million Americans have diabetes andabout half these people are not diagnosed. Over 150,000 Americans die each yearbecause of this disease. The mortality and morbidity of diabetes are due to thecomplications of the disease affecting the eye (retinopathy), the nervous system(neuropathy), the kidney (nephropathy), and cardiovascular disease associatedwith the disease. Often people only become aware that they have diabetes whenthey develop one of its life threatening complications. Early diagnosis andtreatment can diminish the morbidity and early mortality associated with thisdisorder.

The Rockefeller study seeks to recruit individuals with type 2 diabeteswith at least one other living family member affected with type 2 diabetes.Since this is a genetic study, it is important to study family members who donot have diabetes as well.

Participation in the study involves:

• signing an informed consent form;
• having a blood sample drawn for genetic analysis, as well as fordeterminations of fasting glucose, cholesterol, triglycerides, uric acid,creatinine and hemoglobin A1c levels;
• completing a family and medical history questionnaire ; and
• having blood pressure, temperature, pulse, weight, height and waist and hipmeasurements taken.

People interested in enrolling as participants should call

People interested in enrolling as participants should call Eileen Buckley,M.S.N., R.N., A.N.P.-C.S. or Jennifer Napoleone, B.S.N., R.N. at 1-888-920-9100or 212-327-7521 for more information. All information is kept confidential andthere are no costs to participants of this study. People accepted into the studywill receive a copy of laboratory values for the medical tests performed andwill also be offered diabetes information and education.

Local participants may come to the Out-Patient Department at The RockefellerUniversity Hospital for the study. Participation of out of state clients canalso be easily arranged. The Rockefeller University Hospital is the oldesthospital in the United States devoted solely to experimental medicine.Established in 1910, the hospital links laboratory investigations with bedsideobservations to provide a scientific basis for disease detection, prevention andtreatment. This special hospital environment served as the model for the WarrenG. Magnuson Clinical Center, opened at the National Institutes of Health in1953, and similar facilities supported by federal funding at more than 75medical schools in the United States.

Rockefeller University began in 1901 as the Rockefeller Institute for MedicalResearch, the first U.S. biomedical research center. Rockefeller faculty membershave made significant achievements, including the discovery that DNA is thecarrier of genetic information and the launching of the scientific field ofmodern cell biology. The university has ties to 19 Nobel laureates, includingthe president, Torsten N. Wiesel, M.D., who received the prize in 1981. Inaddition to the Starr Center for Human Genetics, the university recently createdcenters to foster research of Alzheimer's Disease, of biochemistry andstructural biology, of sensory neurosciences, of immunology and immune diseasesand of the links between physics and biolo