What is the significance of the USP18 gene mutation found by Indian researchers?

The USP18 gene mutation is significant because it's linked to recurrent neurological decline in children, offering new diagnostic and treatment avenues for a rare brain disorder.

How does the USP18 gene mutation affect children's brains?

The mutation disrupts the USP18 gene's function in regulating immune response, causing an overactive immune system to attack the brain, leading to neurological symptoms.

What is Pseudo-TORCH syndrome type 2?

Pseudo-TORCH syndrome type 2 is a rare inherited condition affecting brain growth and function, causing severe neurological symptoms without an actual infection.

Home / Health / India Identifies New Gene Mutation Causing Brain Disorder

India Identifies New Gene Mutation Causing Brain Disorder

27 Nov

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Summary

Indian researchers discovered a rare USP18 gene mutation.
This mutation is linked to recurrent neurological decline in children.
The findings offer new hope for diagnosing and treating a rare disorder.

A team of Indian researchers has pinpointed a rare USP18 gene mutation, a discovery offering critical insights into a neurological disorder previously documented in only a handful of cases worldwide. This finding marks the first instance of this specific mutation being reported in India, identified by a collaborative effort involving institutions in Bangalore and Delhi.

The USP18 gene plays a vital role in regulating the body's immune response. A malfunction in this gene can lead to an overactive immune system that mistakenly attacks the brain, causing severe neurological symptoms in children. These symptoms can mimic infections but are due to the body's own defense mechanisms gone awry.

This groundbreaking research, published in Clinical Dysmorphology, identified an unreported variant, c.358C>T (p.Pro120Ser). The discovery, initiated by studying an 11-year-old girl with recurring febrile encephalopathy, is expected to revolutionize diagnosis and treatment, enabling more targeted therapies and informed genetic counseling for families affected by this rare condition.