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Novel gene causing amyotrophic lateral sclerosis

May 2015. Amyotrophic lateral sclerosis (ALS) is a devastating disease characterized by loss of motor neurons and neurodegeneration, usually leading to death within 3-4 years. Despite being classified as rare disease, public awareness is very high, fueled by celebrity patients like Stephen Hawking and culminating in last years’ Ice Bucket Challenge, a charity campaign with global impact. Still, there is no treatment for ALS, despite intensive research in the field.

Researchers from IBC2 and BMLS have now made a major step towards a better understanding of the genes causing ALS. They were part of an international research team initiated by Ulm and Umea Universities, which discovered that mutations in a particular kinase (Tank-binding kinase 1, TBK1) lead to loss of function of this important regulator in families with a history of ALS. The Frankfurt team around Ivan Dikic was particularly involved in revealing the functional role of TBK1 in ALS, showing that the mutations found in patients disrupt the interaction of TBK1 with its adaptor protein optineurin, which has been shown to be involved in ALS pathogenesis as well as in bacterial infection defense. Co-lead author Benjamin Richter from the Dikic lab comments: “For me as a medical doctor working in basic science this story represents the ideal case of explaining the pathophysiology of a disease by a collaborative effort across disciplines.” The exiting results are published in the latest issue of Nature Neuroscience and are put in perspective in an accompanying News and Views article (more).


Full reference:
Freischmidt et al. (2015) Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia. Nature Neuroscience 18:631–636. Link to research publication


Ivan Dikic
Institute of Biochemistry II
Buchmann Institute for Molecular Life Sciences
Goethe University Frankfurt
Frankfurt (Main), Germany
Tel.: +49 (0)69 6301-5964