Hayley McLoughlin
University of Michigan, MI·Neuroscience
Spinocerebellar ataxia type 3, or SCA3, is the most common inherited ataxia passed down through families, and there is no effective treatment. It damages brain regions that coordinate movement, so patients lose coordination, have trouble swallowing, and walk unsteadily.
- Fields
Neuroscience
Medicine & Clinical Research
Genetics
- Topics
spinocerebellar ataxia type 3
Machado-Joseph disease
peripheral neuropathy
- Grants
- 1 known grant, through Jul 2030
What they work on
- Characterize the onset and progression of peripheral neuropathy in two SCA3 mouse models using functional nerve assessments alongside histological analysis of peripheral nerve tissue.
- Test whether specific subtypes of dorsal root ganglion sensory neurons, the nerve cell clusters outside the spinal cord that relay touch and pain, are selectively dysregulated in SCA3 mice and in postmortem patient tissue.
- Determine whether demyelination, loss of the insulating sheath around nerve fibers, contributes to peripheral neuropathy onset in SCA3 mouse models.
- Define cell-type-specific gene expression changes underlying SCA3 peripheral neuropathy through transcriptional profiling across disease stages.
More about the research
Less recognized is that more than half of patients also develop peripheral neuropathy: damage to the nerves outside the brain and spinal cord, causing numbness or burning pain in the hands and feet that limits mobility and quality of life. Research has focused almost entirely on the brain, leaving these peripheral symptoms poorly explained.
Why it matters
Peripheral nerve symptoms affect more than half of people with spinocerebellar ataxia type 3 and contribute substantially to pain and loss of mobility, yet no treatments address them. Pinpointing the sensory neuron subtypes and myelin changes involved could identify targets for therapies aimed at peripheral symptoms, and may apply to other multisystem neurodegenerative diseases with nerve involvement.
Known grants
From NIH and NSF research grants. Labs often have other funding we can't see.
Closest labs
Bin Pan
University of Texas Medical Branch at Galveston, TX·Neuroscience
Establish whether CaMKII activity in peripheral sensory neurons suppresses pain, testing the hypothesis that reduced CaMKII signaling in dorsal root ganglion neurons maintains chronic pain in preclinical neuropathic and osteoarthritic pain models.
Francesca Bartolini
Columbia University, NY·Neuroscience
Test whether unrelated CIPN-causing chemotherapy drugs share a mechanism of altering tubulin post-translational modifications early, before neuropathy symptoms appear, using cellular and preclinical models.
Xin Chen
University of Texas Southwestern Medical Center, TX·Genetics
Test whether AAV9fyhr-delivered PDHA1, injected into the spinal fluid of E75A mice at several doses and at young or older ages, improves behavior and corrects metabolic measures in this model of pyruvate dehydrogenase complex deficiency.
The school
University of Michigan: 124 labs on PI Pages, $2.1B a year on research, 963 research doctorates a year.
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