Abstract
Huntington’s disease (HD) is an inherited, dominant neurodegenerative disorder caused by an abnormal expansion of CAG triplets in the huntingtin gene (htt). Despite extensive efforts to modify the progression of HD thus far only symptomatic treatment is available. Recent work suggests that treating invertebrate and mice HD models with metformin, a well-known AMPK activator which is used worldwide to treat type 2-diabetes, reduces mutant huntingtin from cells and alleviates many of the phenotypes associated to HD. Herein we report statistical analyses of a sample population of participants in the Enroll-HD database, a world-wide observational study on HD, to assess the effect of metformin intake in HD patients respect to cognitive status using linear models. This cross-sectional study shows for the first time that the use of metformin associates with better cognitive function in HD patients.
Highlights
Huntington disease (HD, OMIM entry #143100) is a dominant, inherited neurodegenerative disease caused by an abnormal CAG expansion within the first exon of the huntingtin gene, htt
In this study we performed a statistical analysis of the Enroll-Huntington’s disease (HD) cohort (December 2016 release) to assess the relationship between metformin use and cognitive status in HD patients and healthy controls
As all the participants that take metformin do so to treat their type 2 diabetes, our statistical approach was based on assessing the interaction between metformin intake and HD status using linear models
Summary
Huntington disease (HD, OMIM entry #143100) is a dominant, inherited neurodegenerative disease caused by an abnormal CAG expansion within the first exon of the huntingtin gene, htt This gene encodes a cytosolic protein, huntingtin (Htt) whose function is still unclear, several roles have been suggested [1]. The CAG expansions found in HD patients encode poly-glutamine tracts (polyQ) which consist of 36 or more Gln residues conferring abnormal toxic properties on the huntingtin protein. Such mutant Htt (mHtt) tends to aggregate both with itself and with other proteins perturbing both its own function and the function of the other molecules [2]. The later can be identified in HD patients many years prior to clinical diagnosis of motor-based changes [4,5,6,7]
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