Investigators Examine how Neurofibromatosis Leads to Premature Cardiovascular Disease

It is a quite common genetic problem that can surface as a set of dark skin spots and outcome in a host of maladies from tumors to premature cardiovascular condition.

Medical College of Georgia investigators think their research of how neurofibromatosis 1, or NF1, can alarmingly thicken or thin blood vessel walls will one day assist doctors better recognize and treat these young sufferers at cardiovascular risk.

Dr. Brian Stansfield, neonatologist and physician-scientist at MCG and Children’s Hospital of Georgia stated,

“They lie at both ends of the spectrum, as you can imagine,”. He is discussing about two apparently disparate blood vessel issues. Arterial stenosis restricts blood flow by thickening and stiffening artery walls, putting sufferers at danger for hypertension and stroke. Aortic aneurysms weaken walls, leaving sufferers susceptible to bleeding.

“Knowing what could be similar about them could assist us better recognize both at the same time,” said Stansfield. He recently obtained an American Heart Association Scientist Development fund and a New Investigator Honor from the Congressionally Directed Medical Research Programs of the U.S. Department of Defense that are supporting him do just that.

About 7% of sufferers with NF1, an approximated 50,000 to 70,000 globally, have cardiovascular issues. Kids can be born with complex heart defects and/or build arterial stenosis or aneurysms by the time they attain adolescence.

The NF1 gene creates neurofibromin, a large protein identified inside all cells that is a natural tumor suppressor and anti-cell proliferator. It seems to work mostly by controlling the action of a family of proteins known as Ras. Ras is existing in all cells and, when switched on by growth factors, it in turn switches on other proteins that allow cell development, differentiation and survival.

“Ras links the extracellular signal to the intracellular atmosphere,” Stansfield said. On the other hand, NF1 mutations make neurofibromin dysfunctional and cell development haywire.

“It’s basically a cancer of the cardiovascular system,” he said. “If you consider about malignancy, it’s this rampant development of cells that leads to that issue, and arterial stenosis mimics that very perfectly. Arterial stenosis is a fast growth of smooth muscle cells in an area where they must not be.”