[Relationship of MTHFR gene polymorphisms with infertility]

Area of Science:

• Genetics and Molecular Biology
• Reproductive Medicine
• Biochemistry

Background:

• The folate metabolic pathway is crucial for DNA synthesis, repair, methylation, and genome stability.
• Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme regulating folate metabolism.
• MTHFR gene polymorphisms can alter homocysteine levels, impacting DNA synthesis and methylation.

Purpose of the Study:

• To provide an overview of MTHFR gene polymorphisms.
• To highlight the potential connection between MTHFR variations and reproductive function.
• To emphasize the need for further research into MTHFR and infertility.

Main Methods:

• Literature review and synthesis of existing research on MTHFR gene polymorphisms.
• Analysis of the biochemical and physiological roles of MTHFR in folate metabolism.
• Discussion of the implications of MTHFR variations for reproductive health.

Main Results:

• MTHFR polymorphisms can lead to increased oxidative stress and disturbed methylation reactions.
• These disturbances in methylation may negatively affect reproductive function.
• Current evidence suggests a potential association between MTHFR gene variants and infertility.

Conclusions:

• MTHFR gene polymorphisms are implicated in processes vital for cellular health and reproduction.
• Further multicentered, large-sample, and long-term prospective studies are essential.
• Such studies are required to definitively establish the relationship between MTHFR gene polymorphisms and infertility.