Huntington disease is a progressive and incurable genetic condition that affects movement, cognition and behaviour. Brain metabolism in the hereditary disorder is abnormal, with decreased use of glucose. To compensate, researchers believe that branched chain amino acids (BCAA) are used during energy production in the Krebs cycle, meaning BCAA are in short supply. Researchers hypothesised that providing an alternative source of substrates for the Krebs cycle could improve brain metabolism.
In a small proof-of-concept study published in Neurology (online, 7 January 2015)
, ten patients with early symptoms of the disease were given the fatty acid food supplement triheptanoin oil. Metabolism of triheptanoin in the liver provides substrates that effectively fuel the Krebs cycle. After a month of administering triheptanoin oil, patients’ brain metabolism profile, assessed by magnetic resonance spectroscopy, went from abnormal to more normal (P=0.005) and there was an improvement in motor function (P=0.012).
Next, the researchers would like to analyse how triheptanoin oil affects other symptoms of Huntington disease, such as deterioration of parts of the brain.