This Single Genetic Alteration Could be Linked to Dozens of Medical Conditions

According to a story from Medical Xpress, a recent study has revealed that a certain genetic premutation affected the FMR1 gene could be a risk factor for far more health problems that originally thought. This genetic alternation is characterized by the presence of an abnormally high number of trinucleotide repeats. In recent years, more studies have been published that implicate this premutation in a number of conditions, both rare and otherwise.

FMR1 and Fragile X Syndrome

For years the main medical problem associated with the FMR1 premutation was a rare disease called fragile X syndrome. People who carried the gene variant were at an elevated risk of producing children that had the disorder, which can cause serious developmental disabilities. Most people are unaware that they have the premutation unless a family member has been diagnosed with fragile X syndrome. Other research has revealed that female carriers of the premutation are more likely to experience early menopause. Another study linked the FMR1 premutation to a neurodegenerative disorder.

Study Findings

The latest study has added to the list of diseases and health problems that are associated with the gene alteration. The researchers looked at many years of health record data from around 20,000 people using machine learning. The findings from this analysis revealed that premutation carriers appeared to have a higher risk of incontinence, depression, bone fractures, anxiety, stomach problems, mood disorders, breathing problems, sleep apnea, and more. However, the researchers note that not all carriers are affected by these problems and each patient has a distinct health experience.

This appears to indicate that the FMR1 gene alteration is not the sole driving factor, but a pattern has undeniably revealed itself in this study. The data also revealed patterns along gender lines. In older age, men were more likely to face urinary incontinence, respiratory issues, and depression, while women were at greater risk of panic disorders, fertility issues, and social phobias.

The researchers conclude by saying that the findings were surprising but also confirm some conditions that had long been suspected as being linked to the FMR1 premutation. Future studies of other genetic variants could have similarly broad-ranging results. 

Check out the original study here.


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