Children's Hospital Medical Center of Cincinnati Researcher Identifies Genetic Cause of Type of Primary Pulmonary Hypertension
CINCINNATI -- A researcher at Children's Hospital Medical Center of Cincinnati is among a group of scientists who have identified a genetic mutation as the cause of familial primary pulmonary hypertension -- a progressive and often fatal lung disorder.
The cloning of the gene, reported in the September edition of the Journal Nature Genetics, provides hope that better treatments can be developed and, eventually, a cure found, according to William C. Nichols, PhD, co-author of the study and a researcher in Children's Hospital Medical Center of Cincinnati's Human Genetics Division.
Primary pulmonary hypertension (PPH) results in progressive narrowing of the blood vessels of the lungs, causing high blood pressure in those vessels and eventually leading to heart failure. Most PPH is "sporadic," but about six percent of cases of PPH are due to familial PPH (FPPH) and run in families. It is estimated that there are one to two cases of PPH per million population, or 300 new cases a year.
The researchers reported that defects in the BMPR2 gene, which regulates growth and development of the lung, are associated with FPPH. Research has not yet been published on a possible link between mutations in the BMPR2 gene and individuals with sporadic PPH.
"Because of what is known as 'reduced penetrance,' not everybody who carries mutations in the gene develops the disease," says Dr. Nichols. "There may be modifier genes involved that we'd want to localize."
The research is the culmination of nearly 20 years of work to identify possible immunologic and genetic factors in the cause and progression of PPH, according to Claude Lenfant, MD, director of the National Heart, Lung, and Blood Institute of the National Institutes of Health, which funded the study. "Now that we have pinpointed the gene, we can focus on learning how it works," says Dr. Lenfant. "That information should enable us to devise better treatments and perhaps eventually a preventive therapy or cure."
PPH recently gained national attention because of its association with appetite suppressants, which subsequently were taken off the market. PPH primarily affects women of childbearing age, although it can occur at any age, including infancy. Without treatment, PPH is usually fatal within about three years. The most common forms of treatment for advanced PPH are lung transplantation and continuous intravenous administration of prostacyclin, which dilates or relaxed blood vessels.
Contact Information
Jim Feuer,
jfeuer@chmcc.org
