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Researchers crack mystery behind rare bone disorder


Researchers crack mystery behind rare bone disorder

New Delhi, Apr 13 (ANI): A latest research has found certain mutation causing 'dripping candle wax' bone disease. Researchers from National Institute of Health offered important clues about bone development.

Melorheostosis, a rare disorder causing excess bone formation that resembles dripping candle wax in X-Rays, causes pain and deformity which can limit function of bones. Researchers conducted study by comparing samples of healthy and affected bones from each participant to ascertain exome.

Exome is a portion of genome that is a code for proteins. The analysis revealed that more than 8 out of 15 participants had mutations in the MAP2K1 gene in the affected bone only.

The study was able to identify the responsible mutation in half of the patients. The study has been published in journal Nature Communications.

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