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Magnesium-permeable TRPM6 polymorphisms in patients with meningomyelocele
Mehmet Saraç1, Ebru Önalan2, Ünal Bakal1
1Department of Pediatric Surgery, Firat University Medical Faculty, 23119 Elazig, Turkey.
Background:
To evaluate whether there is an association between single nucleotide polymorphisms in magnesium-permeable TRPM6 ion channel and development of meningomyelocele (MMC). Therefore, we examined a total of 150 children with MMC, along with age- and gender-matched controls. DNA collected from whole blood was analyzed for the presence of two polymorphisms, rs2274924 (A > G; K1579E; Leu1579Glu) and rs3750425 (G > A; Val1393Ile), in TRPM6. Serum Mg2+ and calcium levels were also examined.
Results:
A statistically significant difference in the distribution of rs2274924 genotypes (p = 0.049) was observed between the groups. Decreases in the AA genotype, and increases in the AG heterozygous genotype were also detected in the study group. The distribution of polymorphisms in the rs3750425 genotype and alleles was not statistically different between groups. Serum Mg2+ levels were lower in the GG genotype of rs3750425 compared with the GA and AA genotypes (p = 0.003).
Conclusions:
A statistically significant difference in rs3750425 genotypes was observed between the patients with MMC and the controls, which corresponded to lower serum Mg2+ concentrations in these patients. Taken together, these results suggest that genetic variations in the Mg2+-permeable TRPM6 ion channel may play a role in the etiopathogenesis of MMC during embryonic development.
Insights
Genetic variations in the magnesium-permeable TRPM6 ion channel are associated with meningomyelocele (MMC). Lower serum magnesium levels were observed in patients with specific TRPM6 genotypes, suggesting a role in MMC development.
Area of Science:
- Genetics
- Molecular Biology
- Developmental Biology
Background:
- Meningomyelocele (MMC) is a complex birth defect.
- The TRPM6 ion channel is crucial for magnesium transport.
- Genetic factors are implicated in MMC development.
Purpose of the Study:
- To investigate the association between TRPM6 gene polymorphisms and meningomyelocele.
- To determine if specific TRPM6 variants influence serum magnesium levels in MMC patients.
Main Methods:
- Genotyping of two TRPM6 polymorphisms (rs2274924 and rs3750425) in 150 children with MMC and controls.
- Analysis of serum magnesium (Mg2+) and calcium levels.
- Statistical comparison of genotype and allele frequencies, and serum ion concentrations between cases and controls.
Main Results:
- A significant difference in rs2274924 genotype distribution was found between MMC patients and controls (p=0.049).
- The AA genotype was decreased, and the AG heterozygous genotype was increased in the MMC group.
- Lower serum Mg2+ levels were observed in individuals with the GG genotype of rs3750425 compared to GA and AA genotypes (p=0.003).
Conclusions:
- Genetic variations in the TRPM6 ion channel are significantly associated with meningomyelocele.
- Specific TRPM6 genotypes correlate with altered serum magnesium levels in MMC patients.
- These findings suggest TRPM6 gene variations may contribute to the etiopathogenesis of MMC.
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