Gene of rare and unknown diseases discovered 08:09

Scientists from Baylor College of Medicine, the National University of Singapore and several other institutions performed genetic diagnostics for 30 patients with unknown diseases. Their work, published in the journal Genetics in Medicine, made it possible to clarify the role of the gene. FLVCR1 in the development of rare diseases.

According to the study, scientists concluded that rare variants of the FLVCR1 gene are associated with serious disorders such as developmental defects, epilepsy and insensitivity to pain. The FLVCR1 protein encoded by this gene plays a role in the formation of cell membranes and the transport of choline and ethanolamine, which are necessary for the normal functioning of cells, especially the nervous system.

The researchers conducted an in-depth analysis of the patients’ genetic and clinical data. As part of their program, scientists identified 30 people from different families with rare variants of the FLVCR1 gene. Additional laboratory experiments were performed to evaluate the effect of these variants on the transport of important substances in cells.

As a result of the study, researchers managed to discover 22 new variants of the FLVCR1 gene that were not previously described in the scientific literature. The analysis showed that various gene mutations can cause a wide range of symptoms, from severe developmental disorders and epilepsy to anemia and bone disorders. These features overlap with defects identified in animal models and link the FLVCR1 gene to a condition resembling Diamond-Blackfan anemia.

Data obtained from studies at the cellular level have shown that mutations in the FLVCR1 gene reduce the transport of choline and ethanol, which negatively affects the development of the nervous system and other vital functions. This confirms the importance of these molecules for normal neurodevelopment and functioning of the central and peripheral nervous systems, and their deficiency can trigger neurodegenerative processes.

Scientists say discovering the mechanisms involved in FLVCR1 could help develop new approaches, such as using choline supplements, to treat patients with similar mutations.

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