The cryo-EM structure of Huntingtin

Publication in Nature

Huntingtin is a very large cellular protein with important functions for embryonic development and for numerous cellular processes such as vesicular transport, endocytosis, autophagy and the regulation of transcription.

 

Huntington’s disease (HD) is an inherited disease caused by a mutation in the Huntingtin gene: an expansion of a CAG triplet repeat in the Huntingtin gene results in an extended polyglutamine (pQ) tract at the N-terminal end of the protein. While it is clear that the mutation causes HD the exact pathomechanism has not been clarified in all details.

Clinically, HD is characterized by involuntary movements and later by loss of mental abilities.

 

In order to get a better understanding of the function of the Huntingtin protein determining its structure would be of significant importance. This goal has now been achieved together with collaborating scientists from the Max Planck Institute of Biochemistry (Munich).

The results are very import for further research work on the understanding of the normal function of Huntingtin and could lead the way for the development of novel treatment modalities for HD.

 

Q. Guo, B. Huang, J. Cheng, M. Seefelder, T. Engler, G. Pfeifer, P. Oeckl, M. Otto, F. Moser, M. Maurer, A. Pautsch, W. Baumeister, & R. Fernández-Busnadiego and S. Kochanek: The cryo-EM structure of huntingtin. 2018 Mar 1; 555(7694):117-120.

 

 

 

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