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<\/a><\/p>\nD\u00edaz-Mu\u00f1oz et al. identified therapeutically tractable mechanisms involved in the control of gut motility, including a previously unrecognized role for vitamin B1. Image credit: Hillman et al., doi: 10.1264\/jsme2.ME17017 \/ CC BY 4.0.<\/p>\n
Gastrointestinal motility underlies food digestion, nutrient absorption and waste elimination, making it essential for human health and well-being.<\/p>\n
Its regulation depends on a multifactorial network of communication involving the gut-brain axis, the immune system and the gut microbiome, and is further influenced by external factors such as diet, physical activity and medications.<\/p>\n
Alterations in the control of motility and peristalsis represent a key pathogenic mechanism in IBS and other disorders of gut-brain interaction, as well as in severe dysmotility conditions such as chronic idiopathic intestinal pseudo-obstruction.<\/p>\n
In a new study, Professor Mauro D\u2019Amato, a researcher at LUM University, CIC bioGUNE- BRTA and the Ikerbasque, and his colleagues used a large-scale genetics approach to search for common DNA differences associated with gut motility.<\/p>\n
They studied questionnaire and genetic data from 268,606 people of European and East Asian ancestry and used computational analyses to pinpoint which genes and mechanisms are most likely involved.<\/p>\n
They identified 21 regions of the human genome influencing bowel movement frequency, including 10 that had not been reported before.<\/p>\n
Several of the genetic signals pointed to pathways and mechanism already known to affect gut movement, which was reassuring because it means the results align with biology that makes sense.<\/p>\n
For example, the study highlighted bile-acid regulation (bile acids help digest fats and also act as signaling molecules in the gut) and nerve signaling relevant to intestinal muscle contractions (including acetylcholine-related signaling, which helps nerves communicate with muscle).<\/p>\n
But the most striking result emerged when the researchers narrowed down their findings to two high-priority genes converging on vitamin B1 biology, specifically genes linked to how thiamine is transported and activated in the body (SLC35F3 and XPR1).<\/p>\n
To explore whether this vitamin B1 signal shows up in real-world data, they then turned to additional dietary information from UK Biobank.<\/p>\n
In 98,449 participants, they found that higher dietary thiamine intake was associated with more frequent bowel movements.<\/p>\n
Importantly, the relationship between thiamine intake and bowel movement frequency differed depending on a person\u2019s genetic makeup at the SLC35F3 and XPR1 genes (analyzed together as a combined genetic score).<\/p>\n
In other words, the data suggest that inherited differences in thiamine handling may influence how vitamin B1 intake relates to bowel habits in the general population.<\/p>\n
\u201cWe used genetics to build a roadmap of biological pathways that set the gut\u2019s pace,\u201d said Dr. Cristian Diaz-Mu\u00f1oz, a researcher at CIC bioGUNE- BRTA.<\/p>\n
\u201cWhat stood out was how strongly the data pointed to vitamin B1 metabolism, alongside established mechanisms like bile acids and nerve signaling.\u201d<\/p>\n
The study also supports a meaningful biological overlap between bowel movement frequency and IBS, a common condition affecting millions worldwide.<\/p>\n
\u201cGut motility problems sit at the heart of IBS, constipation and other common gut-motility disorders, but the underlying biology is very hard to pin down,\u201d Professor D\u2019Amato said.<\/p>\n
\u201cThese genetic results highlight specific pathways, especially vitamin B1, as testable leads for the next stage of research, including lab experiments and carefully designed clinical studies.\u201d<\/p>\n