CTX
DISEASE – SCI & TECH
News:
Hyderabad researchers
find remedy to stop progression of rare genetic disease
What's
in the news?
●
Recently, Hyderabad researchers found a
remedy to stop progression of rare genetic disease.
Key
takeaways:
●
Only four CTX cases have so far been
medically documented in India.
CTX
Disease:
●
It is a lipid-storage skin disease with no known medical cure but its
progression can be stopped.
●
It is a rare autosomal recessive genetic disorder caused by an abnormality
in the CYP27A1 gene.
Features:
●
The lack of this enzyme prevents
cholesterol from being converted into a bile acid called chenodeoxycholic acid.
●
It starts with diarrhoea in infancy and progresses to cataract in childhood and
neurodegeneration in adolescence or adulthood.
Recent
remedy:
●
The doctors-researchers team stopped the
disease progression by administering two capsules of cholic acid daily as a
specific drug for three months and subsequent diagnosis showed that the levels
of cholesterol (a chemical sterol that makes lipids) have decreased resulting
in drastic control over juvenile diarrhoea.