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The researchers said that this breakthrough study, published in Cell Reports, may bring much-needed treatments to this rare genetic disease that is currently incurable
Huntington's disease is a progressive and destructive neurodegenerative disease with an incidence of about 1 in 10,000 in the UK
This disease is caused by the accumulation of toxic repeat expansion of three DNA fragments called nucleotides (C, A, and G) in the Huntingtin protein (HTT) gene, commonly referred to as repeat expansion disorder
In this study, the researchers investigated the role of FAN1
Using human cells and technologies that can read DNA repeat amplification, researchers found that FAN1 can prevent the accumulation of DNA mismatch repair factors, thereby preventing repeat amplification, thereby reducing the toxicity of patient-derived cells
Dr.
Drugs that can mimic or enhance the inhibitory effect of FAN1 on mismatch repair will change the course of the disease
Professor Sarah Tabrizi, senior author of the study and director of the Huntington’s Center for University College London, the Institute of Neurology, University College London, and the Queen’s Square Dementia Institute, University of London, said: “Our next step is to determine whether this interaction is What an important physiological model and examination if it is easy to handle
The co-senior author of the study, Dr.
Professor Steve Jackson Program and Adrestia Interim CEO, said: "My colleagues and I are very happy to work with Professor Tabrizi, Dr.
This research was funded by the CHDI Foundation and the British Dementia Research Institute
Journal Reference :
Robert Goold, Joseph Hamilton, Thomas Menneteau, Michael Flower, Emma L.