AANS Neurosurgeon | Volume 27, Number 3, 2018

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Study Finds Genetic Mutation Causes ‘Vicious Cycle’ in Most Common Form of ALS

University of Michigan-led research brings scientists one step closer to understanding the development of neurodegenerative disorders such as ALS.

A study details what the researchers describe as a vicious cycle of toxic protein production set in motion by cell stress. The paper explains how a repeat element in the DNA of C9orf72, a gene associated with amyotrophic lateral sclerosis and frontotemporal dementia, is translated into a toxic protein in the face of viral infection, starvation, toxins or problems with misfolded proteins.

It’s the latest study investigating repeat-associated non-AUG (RAN) translation in a host of neurological disorders that result from repeat mutations, including Huntington’s disease, ataxia and myotonic dystrophy.

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