CDFD scientists trace the genesis of Leukemia

Wiedemann-Steiner syndrome (WSS) is a rare genetic disorder caused by mutations in Mixed Lineage Leukemia (MLL/KMT2A) gene which causes Leukemia or blood cancer. MLL protein is a type of enzyme that modifies certain proteins in our DNA which at times could lead to blood cancer which is a common cancer in children making up 28% of all cases.

A group of scientists led by Shweta Tyagi’s group at Centre for DNA Fingerprinting and Diagnostics (CDFD) here, along with Swathi Chodisetty, Aditi Arora and Kausik Kumar Mallik have uncovered an unexpected role for MLL and its partner protein ‘WDR5’.

They have found that MLL-related abnormalities can occur not only through DNA modification but also by other ways. Centrosome is a permanent structure present in the cell required for cell shape, mobility and division. If there is a loss of MLL/WDR5 protein inside the cell, cells struggle leading to an unequal division of our genetic material.

Scientists said WSS is a rare neurodevelopmental disorder with few hundred cases reported worldwide. Children with WSS often experience developmental delays, intellectual disabilities and smaller-than-normal head sizes or microcephaly. Investigations found that due to loss of one MLL gene, there are low levels of MLL protein compared to the normal person. Due to this cell division becomes slower affecting brain development.

CDFD scientists now believe MLL can have a greater impact in the development of brain and the study may also offer potential therapeutic avenues as restoring protein levels and helping cell division to alleviate some symptoms of blood cancer. The study has been published recently in ‘Science Advances’, said a press release.

Published – January 31, 2025 07:57 pm IST

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