Urban says potential treatments could include introducing the protein product of the LTBP4 gene to the newborn or using existing drugs that can moderate transforming growth factor beta (TGF-), which is overactivated in the tissues of these children. The drug losartan, now in trials for treating Marfan syndrome, another connective tissue disorder, has been shown to limit TGF- and merits further research as a possible treatment.

The researchers now are broadening their research into the new syndrome among other patients with cutis laxa. Urban, assistant professor of pediatrics, of medicine and of genetics at Washington University School of Medicine, heads the International Center for the Study of Cutis Laxa at St. Louis Children's Hospital.

"We are finding that about 70 percent of cutis laxa patients with pulmonary, gastrointestinal and urinary problems have Urban-Rifkin-Davis Syndrome," Urban says. "Now we will look at what percentage of cutis laxa patients with only pulmonary problems have the mutation."

Early developmental problems that are not detectable in childhood may predispose a person to age-related disease such as COPD, Urban says. Urban and colleagues are also testing samples collected from patients with COPD for LTBP4 mutations. When lungs are damaged with COPD, alveoli lose their elastic quality, and the walls between them are destroyed as they become thick and inflamed.

"Patients who may have a slightly reduced activity of LTBP4 might be more susceptible to chronic lung diseases later in life," Urban says. "Identifying genes that are central for the formation of alveoli may help us devise ways to regenerate alveoli in patients with COPD."

Source: Washington University School of Medicine