News Health/Medical Rare Variants in YKT6 Gene Linked to New Neurological Disorder
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Genetics

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Rare Variants in the YKT6 Gene Cause New Neurological Disorder

Researchers at Texas Children's Hospital have made a groundbreaking discovery, uncovering the role of rare variants in the YKT6 gene as the underlying cause of a previously unknown neurological disorder. Let's delve into the details:

The Uncharted Territory: YKT6 Gene and Neurological Disorders

For the first time, scientists have linked the YKT6 gene to a genetically inherited disorder. This gene is involved in critical intracellular vesicular trafficking events within cells. The study, led by Dr. Hugo Bellen and Dr. Wendy Chung, sheds light on a condition characterized by developmental delays and severe progressive liver disease.

Unraveling the Genetic Puzzle

The research team identified three unrelated individuals with missense variants in both copies of the YKT6 gene. These variants led to early-onset disease, typically manifesting between four to six months of age. The affected children exhibited failure to thrive, emphasizing the severity of the disorder.

Distinct Variants, Common Impact

Two of the individuals carried an identical missense variant (Tyr185Cys), resulting in liver dysfunction and a potential risk for liver cancer. Remarkably, both of these cases were traced back to the Syrian/Saint Thomas Christians of Kerala, India, a community estimated to comprise approximately 5 million individuals worldwide.

Experimental Insights

Using fruit flies as a model, the researchers explored how YKT6 variants disrupt brain development and liver function. The fly version of the YKT6 protein, akin to its human counterpart, is expressed in analogous tissues—the fat body (akin to the liver) and the brain (akin to the central nervous system). This experimental foundation will pave the way for future studies and potential therapeutic interventions.

In summary, the YKT6 gene, once associated solely with intracellular processes, now takes center stage in understanding a complex neurological disorder. As researchers continue to unravel its mysteries, hope emerges for targeted treatments and improved patient outcomes.

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