MIT Researchers Identify Genetic Markers That Could Revolutionize ALS Treatment

MIT researchers have discovered significant epigenetic modifications in ALS patients that could lead to targeted therapies. These modifications, identified in motor neurons from 380 ALS patients, indicate that ALS might consist of various subtypes, each with distinct genetic influences on disease progression.researchers identified genomic regions with chemical modifications linked to disease progression.

Working with the Answer ALS consortium, a team of MIT researchers has analyzed epigenetic modifications — tags that determine which genes are turned on in a cell — in motor neurons derived from induced pluripotent stem cells from 380 ALS patients. Over time, ALS progresses, and individuals affected by the disease gradually lose the ability to initiate and control voluntary movements such as walking, talking, and chewing, including the ability to breathe. The symptoms of ALS worsen progressively.ALS is a rare disease that is estimated to affect about 30,000 people in the United States.

In this study, Fraenkel and his colleagues wanted to see if patient-derived cells could offer any information about molecular differences that are relevant to ALS. They focused on epigenomic modifications, using a method called ATAC-seq to measure chromatin density across the genome of each cell. Chromatin is a complex ofand proteins that determines which genes are accessible to be transcribed by the cell, depending on how densely packed the chromatin is.

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