Huntington’s Disease and Its Troubling Weight Loss Studied

A recent study explored the association between gastric mucosa (mucus lining) abnormalities in Huntington’s Disease (HD) and mechanisms in the increased weight loss experienced by HD patients.  The study, entitled, “Characterization of Gastric Mucosa Biopsies Reveals Alterations in Huntington’s Disease,” was published in the journal PLOS Currents: Huntington Disease.

A collaborative group of researchers led by Dr Oliver Quarrell, of the Sheffield Children’s Hospital, a UK center of excellence in Clinical Genetics, set out to study gastric mucosa of patients with HD, looking for abnormalities of mucosal cells using experimental methods to investigate changes in cellular mechanisms. They collected samples taken during a gastric biopsy of 12 patients with HD and 10 control patients, and used laboratory techniques to look for abnormalities in intestinal neurons and mucosal cells.

The researchers found that there was a distinct difference in cell density in the control versus the experimental group (HD) and that this cell density is usually observed in patients with high levels of peptic ulcers. Although not a definitive finding, the correlation could potentially be the first evidence as to the cause of increased weight loss in HD patients.

When discussing their findings, Dr. Quarrell and his colleagues wrote, “In line with previous HD mouse studies showing reduction of GI tract neuropeptides, using immunohistochemistry, we detected a reduction in the cell density of G-cells in antrum biopsies from HD subjects compared to the control group. We also observed an increase in cell density could play a role in the increased risk of gastritis/esophagitis in HD since increased levels of pepsin (the active form of pepsinogen) are associated with formation of peptic ulcers. There was no change seen in the cell density of gastric acid producing cells. Interestingly, gastrin is the hormone that upon food intake evokes acid secretion from the parietal cell (gastric acid producing cell), mediated by the subsequent histamine release, indicating that there might possibly be an alteration in parietal cell stimulation in HD subjects.”

The authors conclude that alterations in mucosal cells exist in late stage HD, however, “further studies are needed in order to evaluate whether these alterations lead to functional consequences.”

Studies such as these contribute to the realm of scientific knowledge, even if they do not provide definite conclusions. These results will provide other researchers, perhaps the authors, with a starting point of focus in their efforts to make significant discoveries to combat diseases such as HD.