• ALS Crowd News
    • Apr 15, 2015

    What May Slow ALS Degeneration?

In a recent article in ALS News Today, researchers at Penn Medicine found that hypermethylation can slow the development of ALS. The normal methylation process impacts genes that affect DNA structures.

A research team at Penn Medicine recently found that hypermethylation is able to inhibit the development of Amyotrophic Lateral Sclerosis(ALS) and Frontotemporal Degeneration (FTD) in a study titled,

“This is the first epigenetic modification of a gene that seems to be protective against neuronal disease,” said lead author Corey McMillan, PhD, research assistant professor of Neurology in the Frontotemporal Degeneration Center in the Perelman School of Medicine at the University of Pennsylvania in a recent news release.

A gene called C9orf72 is linked to a DNA binding protein which is related to ALS and FTD.

“Understanding the role of C9orf72 has the possibility to be truly translational and improve the lives of patients suffering from these devastating diseases,” said senior author, Edward Lee, MD, PhD, assistant professor of Neuropathology in Pathology and Laboratory Medicine at Penn.

The study included 20 patients who had a gene mutation of the C9orf72 gene and a diagnosis of FTD or ALS. These patients were compared to 25 healthy individuals.

According to the report:

Results from the MRI showed a reduction in grey matter in many brain areas in the patient groups compared to the controls. Those patients that had hypermethylation of C9orf72 were found to have in the hippocampus thalamus and frontal cortex, more grey matter volume in areas that are affected in ALS and FTD. In order to validate the results the researchers evaluated autopsies of 35 patiets that had C9orf72 expansions and observed that an increased methylation was related with less neuronal loss in the hippocampus and the frontal cortex.

This implies that in patients with C9orf72 hypermethylation, the disease progresses slower. The researchers also found a relationship between hypermethylation and predicted memory decline.

The work identifies a gene that can be targeted to precision medicine treatments and for new drug development in motor neuron diseases. C90rf72 may be a “neuroprotective agent”.

References: “C9orf72 promoter hypermethylation is neuroprotective: Neuroimaging and neuropathologic evidence.” The results are published in the journal Neurology.


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ALS Crowd co-founder, friend and ALS patient supporter. Jenny launched the CrowdCare Foundation in 2012 to bring patient involvement into the acceleration of a cure for rare and orphan diseases.


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