A groundbreaking study has revealed that a mutation in the FLVCR1 gene may explain more than 30 different medical conditions, ranging from developmental delays and bone malformations to early death. The discovery emerged from research on a rare developmental disorder in one patient, with broader implications for understanding various health issues.
FLVCR1 is responsible for transporting two critical nutrients—choline and ethanolamine—inside cells. These nutrients play a vital role in metabolism, which powers the body’s energy processes. Since FLVCR1 is expressed throughout the body, mutations in this gene can result in a wide range of symptoms, depending on how severely nutrient transport is impaired.
The investigation began with a child who had neurodevelopmental delays, seizures, and an unusual inability to sense pain. Although genetic testing had been done previously, the cause of his condition was unknown. Researchers, led by Dr. Daniel Calame at Baylor College of Medicine, reexamined his genetic data and identified a rare mutation in the FLVCR1 gene. This gene had previously been linked to disorders affecting muscle coordination and the retina, but the child’s symptoms were unique.
Further research expanded to a global database of over 12,000 individuals with genetic conditions. This effort identified 30 patients from 23 families who had mutations in FLVCR1, including 22 mutations that had never been reported before. The conditions ranged from stillbirths to survivors with developmental delays, bone abnormalities, and microcephaly (a smaller-than-normal skull). The research also uncovered that FLVCR1 helps move choline and ethanolamine, essential for cellular function, explaining how a single mutation could lead to such a broad spectrum of health problems.
Looking ahead, Dr. Calame and his team are exploring potential treatments, including supplementing choline and ethanolamine, or developing drugs to prevent harmful cellular buildup. These findings also have wider implications for understanding choline deficiency, which has been linked to neurodegenerative diseases like Alzheimer's.
In conclusion, this discovery could not only offer hope for patients with these rare conditions but also lead to new insights and treatments for more common diseases associated with nutrient deficiencies.
REFERENCE:
1. Genetics in Medicine: https://www.gimjournal.org/article/S1098-3600(24)00207-7/abstract
(Input from various sources)
(Rehash/Dr. Sruthi Suresh/MSM)