Huntington’s disease is a relatively rare disease that occurs when a person has altered expression of a specific gene called the huntingtin gene. The presence of this mutated gene initiates the synthesis of an altered protein (similarly called the mutated huntingtin protein, or mHTT) that damages nerve cells in the brain over time. The disease progresses over the course of several years and clinically manifests as gradually worsening mental, emotional and physical dysfunction, to the point of total incapacity.
In this experiment, scientists studied the effect of supplemental vitamin B1 (thiamine) on B lymphocytes (white blood cells) that carried the mutated Huntington gene and compared them to normal B lymphocytes that did not carry the mutated gene, which served as the control. The scientists supplemented vitamin B1 on the two sets of cells and compared the following: (1) cell growth rates, (2) vitamin B1 intake into the cell, (3) genetic profile of 27 different thiamine related genes and (4) the enzyme activity of several B1-dependent proteins.
They found that supplemental vitamin B1 stimulated more of an increase in growth in the mutated Huntington gene cells than the control cells, suggesting the Huntington cells had a higher requirement for vitamin B1. In addition, vitamin B1 intake, and therefore intracellular levels, was increased in the Huntington cells compared to control. Enzyme activity did not differ between cell types, but the expression of genes related to B1-dependent energy metabolism did differ between the control and mutated cell groups.
Vitamin B1 is known for its role in energy metabolism and deficiency has been linked to a several neurological syndromes such as Alzheimer’s disease and Wernicke encephalopathy, which suggests it may play a role in Huntington’s disease. Although this study was done in vitro (in test tubes), the increased expression of B1-related genes upon supplementation of B1 suggests intracellular vitamin B1 levels may play an important role in the manifestation of this enigmatic disease.
(Advances in Clinical and Experimental Medicine, August 2017)
Role of thiamine in Huntington's disease pathogenesis: In vitro studies.