Study Links CHIP Mutations to Specific Symptoms in Spinocerebellar Ataxia

According to a story from MedicalXpress, the results from a recent study are linking biochemical changes affecting a protein known as CHIP to a diverse array of clinical characteristics that may appear in disease in which this protein is mutated. This study was primarily focused on a rare disorder called spinocerebellar ataxia autosomal recessive 16 (SCAR16). The research will help scientists gain a better understanding of this rare disease.

About Spinocerebellar Ataxia

Spinocerebellar ataxia (SCA), also known as spinocerebellar atrophy, is a progressive, degenerative disease that affects the cerebellum, a portion of the brain that is critical for movement control and coordination. These heritable disorders can often be fatal. There are several different types of spinocerebellar ataxia which are linked to a variety of genetic mutations; SCAR16 is linked to mutations affecting a gene called STUB1. Symptoms of these disorders include ataxia (abnormal gait), seizures, poor hand coordination, speech difficulties, peripheral neuropathy, chorea, and cognitive impairments. Unfortunately there is no cure for spinocerebellar ataxia and treatment is mostly focused on relieving symptoms. Physical and occupational therapy can help patients maintain their mobility. Gene therapy could be a potential future option for treating spinocerebellar ataxia. There is a dire need for more effective treatments for this disorder. To learn more about spinocerebellar ataxia, click here.

STUB1 and CHIP

The STUB1 gene is responsible for the production of the CHIP protein, which is present in the vast majority of the human body’s cells. With this in mind, it comes as no surprise that CHIP has some important roles. It is particularly valuable for monitoring and controlling the quality of many proteins that are critical for human health. Biochemical changes to CHIP were found to correlate to symptoms such as inhibited thinking and elevated tendon reflexes. 

This study was led by Dr. Jonathan Schisler, who is associated with the UNC School of Medicine. This research represents a continuation of prior study for Dr. Schisler, who also played a role in a 2013 study that identified the STUB1 mutations and subsequently SCAR16, the disease that they cause. Since that study, nearly two dozen additional mutations in STUB1 have been identified and linked to this rare form of spinocerebellar ataxia.

The original study was published in the Journal of Biochemistry.


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