30 different medical conditions all trace to one gene

Scientists’ investigation of a rare disorder in a single patient has solved [30 other] medical mysteries…..

[P]patients had a wide variety of symptoms, ranging from developmental delay to bone malformations, and even early death. However, it turns out that they all had conditions caused by a mutation in the same gene, called FLVCR1, according to … research … published in the journal Genetics in Medicine.

[Researchers] identified 30 patients from 23 different families with FLVCR1 mutations. There were 22 mutations in total, 20 of which had never been reported before.

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The research might have implications for other conditions involving choline, an essential nutrient people can get from leafy greens, beans and many animal products. Choline deficiency has been linked to age-related nerve damage and neurodegenerative disorders, such as Alzheimer’s.

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