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Scientists discover novel mechanism that causes rare brain disease

Scientists discover novel mechanism that causes rare brain disease

Scientists at the University of California, San Francisco (UCSF) have discovered a novel mechanism that causes a rare brain disease.

The disease, called adhesion frataxinopathy, or AFF, is a progressive neurodegenerative disorder that affects children and young adults. AFF is caused by mutations in the gene encoding frataxin, a protein that is essential for the normal function of mitochondria.

The new study, published in the journal Nature Medicine, shows that AFF is caused by a loss of function of a protein called adhesion G protein-coupled receptor 4 (Adgr4). Adgr4 is a cell surface receptor that is involved in the adhesion of neurons to the extracellular matrix.

The loss of function of Adgr4 in AFF patients leads to a loss of adhesion of neurons to the extracellular matrix, which in turn leads to neurodegeneration.

The findings of the new study could lead to the development of new treatments for AFF and other neurodegenerative disorders.

Sources:

https://www.ucsf.edu/news/2017/09/408816/scientists-discover-novel-mechanism-causes-rare-brain-disease

Scientists have discovered a novel mechanism that causes a rare brain disease. The disease, known as frontotemporal dementia, affects the frontal and temporal lobes of the brain, and is characterized by progressive loss of cognitive and motor skills.

The new study, published in the journal Nature Medicine, shows that the disease is caused by a protein called tau, which is involved in neurodegeneration.

Previous studies had suggested that tau was involved in the disease, but the new study is the first to show how it affects the brain.

The researchers found that tau binds to a protein called FUS, which is involved in the transport of RNA. This binding prevents FUS from working properly, and as a result, the cells in the brain degenerate.

The new finding could lead to the development of drugs that target tau and prevent the disease from progressing.

Frontotemporal dementia is a rare brain disease that affects the frontal and temporal lobes of the brain. The disease is characterized by progressive loss of cognitive and motor skills.

The cause of the disease has been largely unknown, but a new study published in the journal Nature Medicine has uncovered a novel mechanism that causes the disease.

The study shows that the disease is caused by a protein called tau, which is involved in neurodegeneration.

Previous studies had suggested that tau was involved in the disease, but the new study is the first to show how it affects the brain.

The researchers found that tau binds to a protein called FUS, which is involved in the transport of RNA. This binding prevents FUS from working properly, and as a result, the cells in the brain degenerate.

The new finding could lead to the development of drugs that target tau and prevent the disease from progressing.

Frontotemporal dementia is a rare but debilitating brain disease. There is currently no cure for the disease, and it typically progresses rapidly, leading to death within 10 years of diagnosis.

The new study offers hope for the development of treatments that could improve the quality of life for patients with the disease.

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