Adam Avery
Oakland University, MI·Neuroscience
Spinocerebellar ataxia type 5 (SCA5) is an inherited brain disease with no cure or therapy. In SCA5, Purkinje neurons in the cerebellum, the brain region that coordinates movement, slowly degenerate, and patients lose control of walking and limbs.
- Fields
Neuroscience
Genetics
Biology
- Topics
spinocerebellar ataxia type 5
neurodegeneration
β-III-spectrin
- Grants
- 1 known grant, through Jun 2028
What they work on
- Define the neuronal interactomes, the full sets of binding partners, of normal and SCA5-mutant L253P β-III-spectrin in Drosophila neurons, using immunoprecipitation coupled to mass spectrometry.
- Use the interactomes and Drosophila genetic tools to run a targeted modifier screen for genes, such as tropomyosin, whose alteration relieves the reduced dendritic branching caused by SCA5 mutations.
- Determine how β-III-spectrin's N-terminal domain, its phosphorylation and its binding to tropomyosin regulate spectrin–actin binding and SCA5 dendrite defects.
More about the research
The disease is caused by mutations in SPTBN2, the gene for β-III-spectrin. This protein forms part of the internal scaffold (cytoskeleton) of Purkinje neurons and is needed for their dendrites, the branching extensions that receive signals, to grow and function.
Why it matters
No treatment exists for SCA5. Learning how mutant β-III-spectrin damages neuron branching, and finding genes such as tropomyosin that can offset the defect, could point to therapeutic targets. This could help patients with this progressive movement disorder and may inform related cerebellar ataxias.
Known grants
From NIH and NSF research grants. Labs often have other funding we can't see.
Closest labs
Sharan Srinivasan
University of Michigan, MI·Neuroscience·Early-career
Test whether exercise improves motor behavior in spinocerebellar ataxia mouse models by correcting abnormal Purkinje neuron firing or through other pathways, using electrophysiology and motor testing.
Vikram Shakkottai
University of Texas Southwestern Medical Center, TX·Neuroscience
Define how membrane excitability, meaning how easily a neuron fires, relates to inferior olive degeneration in SCA1 knockin mice. Test whether restoring normal excitability prevents the degeneration.
Kenneth Irvine
Rutgers University-New Brunswick, NJ·Biology
Determine how phase-separated condensates of Warts with Jub, and Jub-promoted phosphorylation of the Warts N-terminus, inhibit this Hippo pathway kinase in Drosophila tissues.
The school
Oakland University: 5 labs on PI Pages, $39M a year on research, 60 research doctorates a year.
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