SCA and ALS-linked Gene Ataxin-2 Also Regulates Circadian Clock

Dr. Ravi Allada,
professor of neurobiology at Northwestern University, working with postdoctoral
fellow, Dr. Chunghun Lim, recently discovered that the neurodegenerative
disease linked gene, ataxin-2, is responsible for helping to regulate the body’s
circadian clock.
Poly-glutamine expansions in ataxin-2 have long been linked to spinocerebellar
ataxia type 2 (SCA2). In 2010, Dr. Aaron Gitler and Dr. Nancy Bonini identified
that intermediate glutamine expansions (more than 22 but less than 34) in
ataxin-2 are also associated with a higher risk of ALS. Using Drosophila, the researchers
found that ataxin-2 helps regulate the translation of the protein period (or
PER), which is an important regulator of the circadian clock. Interestingly,
people with SCA2 often have a disrupted circadian clock early in the disease
course. Potentially, these findings could provide new insights not only about
circadian clock regulation, but also they could provide a better understanding
of how cellular level events in SCA2 and ALS translate to disease symptoms.


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