Ground Zero | Interpreters of a malady: How scientists found a rare genetic mutation

April 28, 2017 07:10 pm | Updated May 28, 2018 03:57 pm IST

It’s been two years since Mohammad Nazir, 44, petitioned the government that six of his children be euthanised. Nazir and his wife Tabassum’s desperate plea to terminate the lives of their children was preceded by 15 agonising years of watching six of their eight children debilitated by a malevolent disease that destroys their neurons and steadily wastes away their muscles.

Tucked away on the MLC-1 gene on chromosome 21, researchers informally call it the “Agra” or “Nalband” mutation. Usually when potential genes — that may be out of step from their normal variants by a single letter or an extra letter — are narrowed down, researchers must test out these combinations of base pairs either in lab-cultivated cells (to see if they indeed trigger awry cell growth) or in animal models such as zebrafish.

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