New York, March 9 A team of scientists has revealed a breakthrough discovery, linking genetic variants in the gene ITSN1 to a significantly elevated risk of Parkinson’s disease, a neurodegenerative condition that affects nearly 2 per cent of adults older than 65 years.
The work, led by an international team of researchers at Baylor College of Medicine, AstraZeneca and the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital, could pave the way for new treatments aimed at slowing or preventing Parkinson’s disease progression.
Parkinson’s disease, the second most common neurodegenerative disorder, still has no cure.
“To tackle this unmet need, we analysed genetic data from nearly 500,000 UK Biobank participants and discovered that individuals carrying rare ITSN1variants that impair the gene’s normal function face up to a tenfold higher risk of developing Parkinson’s disease,” said author Dr Ryan S Dhindsa, assistant professor of pathology and immunology at Baylor College of Medicine.
These findings, published in Cell Reports, were subsequently validated across three independent cohorts comprising more than 8,000 cases and 400,000 controls.
Notably, ITSN1 carriers trended toward earlier age of disease onset.
What makes this discovery so significant is the exceptional magnitude of the effect of ITSN1 in increasing Parkinson’s risk, especially when compared with variants in other well-established, genes such as LRRK2 and GBA1.
"We focus on rare genetic mutations because they often confer large effects on disease risk that reveal critical disease mechanisms. These genetic discoveries not only deepen our understanding of Parkinson's biology but also unveil promising new targets for therapeutic intervention," Dhindsa explained.
ITSN1 plays an important role in how neurons send messages to each other – a process called synaptic transmission – making it particularly relevant to Parkinson’s disease, a condition in which disruption of nerve signals leads to the typical symptoms of impaired gait and balance, tremors and rigidity.
“We also showed in fruit flies that reducing ITSN1 levels worsens Parkinson’s-like features, including the ability to climb. We plan to extend these investigations to stem cell and mouse models,” Dhindsa said.
The study highlights ITSN1 as a promising therapeutic target and underscores the value of large-scale genetic sequencing in identifying rare mutations that contribute to complex neurological disorders.
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