Scientists discovered that a rare genetic disease called Verheij syndrome, caused by problems with how cells process genetic instructions, might be helped by vitamin B12. The disease disrupts how cells handle certain chemicals needed for growth and development. In laboratory studies using worms, human cells, and patient samples, researchers found that vitamin B12 supplements could restore normal cell function and fix growth problems caused by the disease. This discovery suggests vitamin B12 could be a new treatment approach for this and similar rare genetic conditions, though more research in humans is needed.

The Quick Take

  • What they studied: Whether vitamin B12 could fix problems caused by Verheij syndrome, a rare genetic disease that affects how cells process genetic instructions and manage important chemicals.
  • Who participated: The research used laboratory worms (C. elegans), human cells grown in labs, and samples from actual patients with Verheij syndrome. No specific human trial numbers were reported.
  • Key finding: Vitamin B12 supplements restored normal cell function and fixed growth problems in laboratory models of the disease by helping cells balance important chemicals and rebuild cell membranes.
  • What it means for you: This research suggests vitamin B12 might help people with Verheij syndrome, but it’s still in early stages. More testing in humans is needed before it becomes a standard treatment. If you have this rare disease, talk to your doctor about these findings.

The Research Details

Researchers used three different approaches to study Verheij syndrome. First, they used tiny laboratory worms (C. elegans) that were genetically modified to have the same disease as humans. Second, they studied human cells grown in laboratory dishes that had the disease-causing genetic mutation. Third, they examined actual samples from patients with Verheij syndrome. This combination of approaches helped them understand how the disease works and test whether vitamin B12 could help.

The researchers looked at what happens inside cells when the disease is present. They discovered that the disease breaks a system that cells use to process genetic instructions (called RNA splicing). This broken system causes problems with two important cellular processes: one-carbon metabolism (how cells handle certain chemical reactions) and phospholipid remodeling (how cells rebuild their protective outer membranes).

They then tested whether adding vitamin B12 could fix these broken processes. They measured various cellular markers and observed whether the disease symptoms improved in their laboratory models.

This research is important because it explains how a genetic problem with reading instructions (RNA splicing) connects to problems with cell metabolism and growth. Understanding this connection helps scientists figure out new treatments. By testing in multiple systems (worms, cells, and patient samples), the researchers made their findings more reliable and showed the disease mechanism is consistent across different organisms.

This study used multiple complementary research methods, which strengthens the findings. Testing in laboratory worms, human cells, and patient samples provides different levels of evidence. However, this research was conducted entirely in laboratory settings and hasn’t yet been tested in living humans. The study was published on a preprint server (Research Square), meaning it hasn’t gone through formal peer review yet. More research is needed to confirm these findings and test safety and effectiveness in human patients.

What the Results Show

The main discovery was that vitamin B12 successfully restored normal cell function in laboratory models of Verheij syndrome. When researchers added vitamin B12 to cells and organisms with the disease, it reactivated two key cellular processes: the ability to make important chemical compounds (SAM-dependent reactions) and the ability to rebuild cell membranes (phospholipid remodeling). These improvements led to better cell growth and development.

The vitamin B12 also reactivated a cellular growth signal called mTORC1, which had been shut down by the disease. This is significant because mTORC1 is like a master switch that tells cells when to grow and divide. By turning this switch back on, vitamin B12 helped cells function more normally.

The researchers also found that the disease causes a specific problem with a gene called nhr-114 (HNF4 in humans). When they fixed how this gene’s instructions were being read, it significantly reduced the growth problems caused by the disease. This suggests that fixing this one gene might be especially important for treating the disease.

The researchers discovered that this same mechanism appears to work in other similar rare genetic diseases caused by different splicing problems. This suggests that vitamin B12 might help treat a whole group of rare diseases, not just Verheij syndrome. They also found that the disease disrupts how cells handle a chemical called homocysteine, which is important for many cellular processes. Vitamin B12 helped restore normal homocysteine levels.

This research builds on previous knowledge that vitamin B12 is important for one-carbon metabolism (a key chemical process in cells). However, this is the first study to show a direct connection between vitamin B12, RNA splicing problems, and the specific disease Verheij syndrome. Previous research knew that splicing problems could cause disease, but didn’t understand how they connected to metabolism. This study fills that gap.

This research was conducted entirely in laboratory settings using worms, cells, and patient tissue samples—not in living human patients. Laboratory results don’t always translate to human treatments. The study hasn’t been formally peer-reviewed yet, which is an important quality check. The researchers didn’t test different doses of vitamin B12 or how long treatment would need to continue. They also didn’t study potential side effects in humans. Because Verheij syndrome is very rare, testing in actual patients will be challenging and will require careful clinical trials.

The Bottom Line

Based on this laboratory research, vitamin B12 shows promise as a potential treatment for Verheij syndrome (moderate confidence level for laboratory evidence). However, this is not yet a proven human treatment. If you or a family member has Verheij syndrome, discuss these findings with your genetic specialist or doctor. Do not start vitamin B12 supplementation without medical guidance, as the appropriate dose and safety in humans hasn’t been established. More human clinical trials are needed before this becomes standard treatment.

People with Verheij syndrome or their families should be aware of this research and discuss it with their medical team. Doctors who treat rare genetic diseases and splicing disorders should follow this research. Researchers studying rare genetic diseases and vitamin B12 metabolism should pay attention to these findings. People without Verheij syndrome should not assume vitamin B12 will help with other conditions based on this research alone.

In laboratory models, vitamin B12 showed effects relatively quickly (within days to weeks of treatment). However, in human patients, benefits might take longer to appear and would depend on the dose, how it’s given, and individual differences. Realistic expectations for human treatment would likely be weeks to months to see measurable improvements, but this hasn’t been tested yet.

Want to Apply This Research?

  • For patients with Verheij syndrome (if treatment becomes available): Track weekly measurements of growth rate, energy levels, developmental milestones, and any disease symptoms on a scale of 1-10. Also monitor vitamin B12 blood levels if prescribed by a doctor.
  • If a doctor prescribes vitamin B12 for Verheij syndrome: Set daily reminders to take the supplement at the same time each day. Keep a simple log of any changes in symptoms, energy, or growth. Report any side effects to your doctor immediately.
  • Long-term tracking should include monthly check-ins with your doctor to measure growth, development, and symptom changes. Keep records of vitamin B12 levels, homocysteine levels (if tested), and any improvements in the specific symptoms of Verheij syndrome. Document any side effects or unexpected changes.

This research is preliminary laboratory work that has not yet been tested in human clinical trials. It has not undergone formal peer review. These findings should not be used to self-treat or diagnose any condition. Verheij syndrome is a rare genetic disease that requires specialized medical care. If you or a family member has been diagnosed with Verheij syndrome or a related splicing disorder, discuss this research with your genetic specialist or physician before making any treatment decisions. Do not start, stop, or change any vitamin B12 supplementation without medical guidance. This summary is for educational purposes only and does not constitute medical advice.