3D Changes in DNA May Lead to a Genetic Form of ALS
Read the full article 3D Changes in DNA May Lead to a Genetic Form of ALS at NeuroscienceNews.com.
New findings reveal how a mutation, a change in the genetic code that causes neurodegeneration, alters the shape of DNA, making cells more vulnerable to stress and more likely to die.
The particular mutation, in the C9orf72 gene, is the most common cause for amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig’s disease), and frontotemporal degeneration (FTD), the second most common type of dementia in people under 65. The mutation may also be associated with Alzheimer’s and Huntington’s diseases.
The research is in Nature. (full access paywall)
Research: “C9orf72 Nucleotide Repeat Structures Initiate Molecular Cascades of Disease” by Aaron R. Haeusler, Christopher J. Donnelly, Goran Periz, Eric A. J. Simko, Patrick G. Shaw, Min-Sik Kim, Nicholas J. Maragakis, Juan C. Troncoso, Akhilesh Pandey, Rita Sattler, Jeffrey D. Rothstein and Jiou Wang in Nature. doi:10.1038/nature13124
Image: Nucleolin (green) is scattered throughout the nucleus (blue) in a motor neuron obtained from induced pluripotent stem cells generated from the skin biopsy of an ALS patient. Credit Jiou Wang, Ph.D., Johns Hopkins University.