Baylor Reports on Collaborative Research Revealing Ataxin-1 Gene Linked to Alzheimer’s Disease

Aug 23, 2019 | Alzheimer's Disease, Ataxin-1 Gene, Gene, Geonomics

A doctor showing the dna genetics mechanism through the magnifier.

A group of preeminent university preclinical researchers, including Baylor, reveal that the Ataxin-1 gene, which is known to cause the rare neurodegenerative disease called spinocerebellar ataxia type 1 (SCA1), also can increase the risk of Alzheimer’s disease in a mouse model of the condition.


It is known by researchers that mutations that expand a region of the ataxin-1 gene cause SCA1. But the team found that the loss of ataxin-1 raises the risk of Alzheimer’s disease. In this preclinical animal research, the gene loss triggers in the murine adult brain increased the production of amyloid-beta peptides typical of the condition, alternations in both neuronal connectivity and the production of new neurons and learning and memory deficits.

The Study

The team observed that knocking out the ataxin-1 gene had a different set of consequences. First, the effects were not focused on the cerebellum, but on the hippocampal region of the cerebrum, where they found evidence of the increased generation of amyloid-beta peptides and disruption of both neuronal connectivity and neurogenesis, which could possibly explain early observations of problems with learning and memory as well. The loss of atazin-1 raises the risk of Alzheimer’s disease.

Lead Research/Investigator

Dr. Huda Zoghbi, Professor of Molecular and Human Genetics, and of Pediatrics and Neuroscience at Baylor

Dr. Rudolph E. Tanzi, Professor and Director of the Genetics and Aging Research Unit, Massachusetts Hospital (MGH)

Dr. Jaehong Suh, Assistant Professor of Neurology, Harvard Medical School and neuroscientist MGH


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