Single Gene Linked to 30 Unexplained Medical Conditions
Researchers have discovered that mutations in the FLVCR1 gene, which regulates the transport of choline and ethanolamine, may explain a variety of medical conditions affecting at least 30 individuals. These conditions range from developmental delays to bone malformations and even early death. The study, led by Dr. Daniel Calame, highlights the gene's role in metabolism and its widespread expression in the body, which can lead to diverse symptoms depending on the severity of the mutation. The findings could have broader implications for understanding other conditions related to choline deficiency.