A new study has found that a cellular housekeeping process known as autophagy may be implicated in a fatal neurological disorder.
The study, conducted by researchers at the University of California, San Francisco, found that autophagy, a process by which cells break down and recycle their own components, is impaired in a mouse model of the fatal disorder known as familial dysautonomia.
The findings, published in the journal Nature Medicine, suggest that autophagy may play a role in the pathogenesis of the disorder, and that drugs that enhance autophagy may be a potential treatment for the disease.
Familial dysautonomia is a rare, inherited disorder that affects the nervous system. Symptoms of the disease include loss of pain sensation, impaired temperature regulation, and gastrointestinal problems.
The disorder is caused by mutations in the gene that encodes the protein IKAP, which is involved in autophagy.
In the new study, the research team generated mouse models of familial dysautonomia by deleting the IKAP gene.
They found that autophagy was impaired in the mutant mice, and that this led to the accumulation of damaged proteins and cellular debris.
Treatment with a drug that enhances autophagy, however, was able to ameliorate some of the neurological symptoms in the mice.
“Our findings suggest that autophagy may be a key process in the pathogenesis of familial dysautonomia, and that drugs that enhance autophagy may be a potential treatment for the disease,” said lead author Lin He, MD, PhD, a professor of neurology at UCSF.
A new study has found that a cellular housekeeping process is implicated in a fatal neurological disorder. The study, published in the journal Nature, found that the process, called autophagy, is impaired in a type of neurological disorder called Batten disease.
Batten disease is a fatal, inherited neurological disorder that affects children. It is characterized by progressive loss of vision and motor skills, and eventual death. There is currently no cure for Batten disease.
The new study found that autophagy, a process by which cells break down and recycle their own contents, is impaired in Batten disease. This impairment leads to the accumulation of toxic material in cells, which eventually kills them.
The study provides new insight into the cause of Batten disease and may lead to new treatments for the disorder. Currently, there is no effective treatment for Batten disease.
The new study was conducted by researchers at the University of California, San Francisco, and the University of Washington.