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Genetic and environmental factors may influence risk for spinal disorder
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Researchers determined that genetic or environmental factors, or a combination of the two, may influence the risk of lumbosacral lipomyelomeningocele in newborns.
Identical 3-month-old twins with lumbosacral lipomyelomeningocele (LMMC) presented to researchers with similar fatty masses from the spinal disorder in their lumbosacral region. Neither child was observed to have any lower-limb deformity; additionally, both appeared to have normal sensory and motor function of the lower limbs. Additionally, there was no family history of LMMC.
The children were born at 34 weeks and experienced possible environmental risk factors, such as a lack of maternal folic acid consumption before and during the first trimester of pregnancy. It has been shown that folic acid can reduce the risk of neural tube defects (NTDs), according to the researchers.
The children’s mother was positive for maternal diabetes, which has demonstrated affects on embryonic gene expression, including those involved in NTDs, the researchers reported. As a result, the embryos may have been predisposed to develop a NTD due to inappropriate gene regulation and expression, providing evidence that maternal diabetes could be predisposed as an etiologic risk factor for NTD. However, no evidence currently exists directly linking these factors with the occurrence of LLMC.
The children had the same potential genes, and polymorphisms in the twins’ genes might play a role in the occurrence of NTDs through altering enzyme activity, according to the researchers. – by Robert Linnehan
Disclosure: The researchers report no relevant financial disclosures.
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