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Genetic Linkage

Rare genetic disorder homocystinuria can cause strokes, seizures and death. A ‘genetic glitch’ in blind cavefish offers hope for a treatment

The discovery of a gene behind the absence of eyes in Mexican cavefish may suggest a new way to treat a rare but debilitating disease in humans – homocystinuria.

 

In homocystinuria, deficiency of an enzyme (cystathionine beta-synthase a, or CBS), blocks the breakdown of two protein building blocks, the amino acids methionine and serine, while a third, cysteine, diminishes. An array of signs and symptoms result.

 

To continue reading, go to Genetic Literacy Project, where this post first appeared.

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