Blocking DUX4 from damaging the muscle cells or the nose precursors can help find treatment for people suffering from rare diseases.
What is FSHD and Arhinia
FSHD type 2 (FSHD2) is an inherited form of muscular dystrophy that causes progressive muscle weakness. Arhinia is an extremely rare yet severe disorder that prevents the development of an external nose and the olfactory bulbs and tracts. Both diseases are caused by mutations in the SMCHD1 gene. In patients with FSHD2, there is overproduction of DUX4 which kills the muscle cells, and this leads to the progressive weakening of the muscles. “It has been known for some time that DUX4 damages the muscle in patients with FSHD2, but what we found is that it can actually also kill the precursors of the human nose,” said Natalie Shaw, M.D., head of the Pediatric Neuroendocrinology Group at the National Institute of Environmental Health Sciences (NIEHS) and lead author of the new study in the journal Science Advances. NIEHS is part of NIH.
Basics of Rare Diseases - Types, Diagnosis and Treatment
Rare or orphan diseases are least understood of all chronic diseases. They are more common than projected and kill more people than cancer and HIV together.
Rare or orphan diseases are least understood of all chronic diseases. They are more common than projected and kill more people than cancer and HIV together.
‘The combination of the mutated SMCHD1 gene and an environmental modifier (virus), may trigger the DUX4 toxic protein linked to rare diseases.’
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.
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.
Muscular Dystrophy / Duchenne Muscular Dystrophy - Overview
Overview about muscular dystrophy, a muscle disease characterized by muscle weakness and muscle wasting.
Overview about muscular dystrophy, a muscle disease characterized by muscle weakness and muscle wasting.
Source-Eurekalert
Steroids Slow Duchenne Muscular Dystrophy Progression When Consumed Daily
Daily steroid doses for children with Duchenne muscular dystrophy (DMD) mark a significant change in treating the disease.
Daily steroid doses for children with Duchenne muscular dystrophy (DMD) mark a significant change in treating the disease.
Test Your Knowledge on Rare Diseases
Rare or orphan diseases are the least understood of all the categories of chronic diseases. Rare diseases are more common than projected and globally they take away more lives than cancer and HIV combined.
Globally around 350 million people are estimated to live with a rare disease. Currently, there are 7000 rare diseases with newer ones being discovered each year. 80% of rare diseases have a genetic origin. Rare diseases may be single-gene disorders or multiple- gene disorders. Almost 50% of those affected are children and 30% of these children will not live beyond the age of 5. It takes nearly 7 years to diagnose a rare disease. 95% of rare diseases do not have a cure.
Rare or orphan diseases are the least understood of all the categories of chronic diseases. Rare diseases are more common than projected and globally they take away more lives than cancer and HIV combined.
Globally around 350 million people are estimated to live with a rare disease. Currently, there are 7000 rare diseases with newer ones being discovered each year. 80% of rare diseases have a genetic origin. Rare diseases may be single-gene disorders or multiple- gene disorders. Almost 50% of those affected are children and 30% of these children will not live beyond the age of 5. It takes nearly 7 years to diagnose a rare disease. 95% of rare diseases do not have a cure.
