Penn Study Provides First Clear Idea of How Rare Bone Disease Progresses

An international team of scientists, led by researchers at the University of Pennsylvania School of Medicine, is taking the first step in developing a treatment for a rare genetic disorder called fibrodysplasia ossificans progressiva (FOP), in which the body’s skeletal muscles and soft connective tissue turns to bone, immobilizing patients over a lifetime with a second skeleton.

Reporting in the November issue of the Journal of Clinical Investigation senior authors Eileen Shore, PhD, Professor of Genetics and Orthopedics, and Mary Mullins, PhD, Professor of Cell and Developmental Biology, with scientists in Japan and Germany, demonstrated that the mutation that causes FOP mistakenly activates a cascade of biochemical events in soft tissues that kicks off the process of bone development. The linchpin of the cellular signaling gone awry is a receptor for a bone morphogenetic protein, or BMP.

The present study provides the first clear glimpse of how FOP might develop at a cellular level in the human body. Shore and co-author Frederick Kaplan, MD, the Nassau Professor of Orthopedic Molecular Medicine, and their research team, discovered the gene for FOP in 2006.

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