The FLVCR1 gene is involved in the transport of choline and ethanolamine, which are essential for maintaining cell membrane integrity and cell division. These compounds are essential for the production of phosphatidylcholine and phosphatidylethanolamine, which play a role in normal development. According to Daniel Calame, lead author of the study and an instructor in pediatric neurology at Baylor College, a patient with a rare FLVCR1 mutation experienced severe developmental disabilities, epilepsy, and complete insensitivity to pain, which prompted the study of the gene.
In an analysis of data from 23 families, researchers identified 22 unique FLVCR1 mutation variants, 20 of which were previously unknown. The identified conditions included severe developmental delays, microcephaly, brain abnormalities, epilepsy, and anemia. These findings were consistent with animal models showing that silencing the FLVCR1 gene caused severe developmental abnormalities and early death.
To understand the impact of these mutations, scientists conducted laboratory experiments, which showed that the mutations reduce the transport of choline and ethanolamine by 50% compared to normal levels. Reduced supply of these substances to the central and peripheral nervous systems leads to neurodegenerative diseases and developmental disabilities. According to the researchers, the severity of the disease depends on the activity of the gene's transport function.
Scientists suggest that supplementing the diet with choline or ethanolamine may aid in the treatment of diseases associated with the FLVCR1 mutation. Further studies will demonstrate the effectiveness of this approach. Kalam noted that the findings will not only help diagnose rare diseases but also improve treatment approaches.
The study highlights the importance of using animal model data in analyzing genetic mutations and the need to consider the broad spectrum of symptoms associated with each gene. As Kalam noted, FLVCR1 mutations were previously considered insignificant due to the inconsistency of characteristics between patients, but combining them allowed us to uncover the overall picture.
These findings became the key to a diagnosis that patients had been waiting for years. "Finding an answer for 30 people who had remained undiagnosed for a long time is truly inspiring," Kalam added.
