This may be what causes arhinia to occur. Using stem cells created from patients with the two diseases, the researchers conducted studies in cranial placode cells, the cells that lead to the development of the body’s sensory organs, such as the nose. As the placode cells started to form, they began to produce the DUX4 protein which caused cell death.
The researchers showed that DUX4 is responsible for cell death in placode cells as it is in muscle cells, but they still do not understand why the nose cells do not die in muscular dystrophy or why the muscle cells are not dying in arhinia.
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The NIEHS researchers have collaborated with researchers at the University of Iowa Carver College of Medicine, Iowa City, which is also the home of a Wellstone Muscular Dystrophy Specialized Research Center. The Centers of Excellence program in muscular dystrophy research was established by NIH in 2003, in honor of the late Senator Paul D. Wellstone of Minnesota. The six Wellstone Centers are funded by the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), the National Institute of Neurological Disorders and Stroke (NINDS), the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), and the National Heart, Lung, and Blood Institute (NHLBI). The Iowa Wellstone Center is funded by NINDS.
NIH will host its Rare Disease Day on Tuesday, Feb. 28, from 9 a.m. to 5 p.m. EST. The annual event is a day to raise awareness about rare diseases and their impact on patients’ lives. This year’s agenda features panel discussions, rare diseases stories, exhibitors, and scientific posters. The event is free and open to the public.
Source: Eurekalert
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