Genetic and epigenetic studies of amyotrophic lateral sclerosis

Abstract

The identification of genetic and epigenetic factors that are associated with an increased risk of developing amyotrophic lateral sclerosis (ALS), or that modify the age of onset or rate of progression, requires a multimodal research strategy, facilitated through international collaboration. The discovery of several ALS genes strongly linked to RNA biology, the proteasome pathway, and axonal transport suggest they have an important role in pathogenesis, but the immense complexity of these processes is also apparent. The increasing rate of genetic discoveries brings the hope of designing more targeted and efficacious therapies.

Key words::

• ALS
• genetic
• epigenetic
• familial ALS
• modifier genes

Acknowledgements

We thank the Motor Neurone Disease Association of Great Britain and Northern Ireland, the ALS Association, the Les Turner ALS Foundation, the ALS Society of Canada, and the Canadian Institutes of Health Research (CIHR) for support.

Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.

The research leading to these results has received funding from the European Community ‘s Health Seventh Framework Programme. AAC receives salary support from the National Institute for Health Research (NIHR) Dementia Biomedical Research Unit at South London and Maudsley NHS Foundation Trust and King’s College London. The views expressed are those of the author and not necessarily those of the NHS, the NIHR or the Department of Health. GAR holds the Canada Research Chair and a Jeanne-et-J-Louis-Levesque Chair for the Genetics of Brain Diseases.