A genetic mutation found in four children born with multiple abnormalities may provide insight into potential treatments for newborn lung distress and chronic obstructive pulmonary disease (COPD). The children were born with abnormally developed lungs, gastrointestinal and urinary systems, skin, skull, bones and muscles. In addition, all had cutis laxa, an inherited connective tissue disorder that causes skin to hang loosely from the bod. Three of the patients died from respiratory failure before age 2. Details about the discovery of the mutation, found by researchers from Washington University School of Medicine in St. Louis, McGill University, New York University Langone Medical Center and collaborating institutions, are published in the Oct. 15 online edition of the American Journal of Human Genetics. Elaine C. Davis, Ph.D., senior author and associate professor of anatomy and cell biology at McGill University in Montreal, Canada, compared various tissues from a mouse genetically engineered to be missing a form of the LTBP4 gene with skin tissue samples from one of the children. She found remarkable similarities. The mouse, provided by Daniel Rifkin, M.D., the Charles Aden Poindexter Professor of Medicine and professor of cell biology at NYU Langone Medical Center, showed similar connective tissue alterations by electron microscopy as the patient. The child had cutis laxa, lethal pulmonary complications and gastrointestinal and urinary disease.
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