Introduction

Infertility affects millions of couples worldwide, with men accounting for half of the cases. Approximately 10% of these men produce little or no sperm.

Research Findings

A recent study led by the Storrs Institute of Medical Research, in collaboration with the Wellcome Center for Cell Biology at the University of Edinburgh, has made significant progress in understanding the causes of male infertility and exploring potential treatments.

The Impact of Sperm Production

According to Scott Hawley, a researcher at the Storrs Institute for Medical Research, the inability to produce sperm is a major cause of male infertility. However, advancements in technology are offering potential solutions for addressing this issue.

Understanding Sperm Formation

The study, published in the journal Science Advances, provides insights into why some men produce insufficient sperm to fertilize an egg. In most sexually reproducing species, including humans, the correct formation of a protein structure called the retinal bridge is crucial for the production of sperm and eggs.

Key Findings

The research team, led by Katherine Bellmair, discovered that a specific change in the retinal bridge structure caused it to collapse in mice, resulting in infertility. This finding offers valuable insights into male infertility in humans, which can be attributed to similar issues with meiosis – the process of cell division producing sperm and eggs.

The Role of the Synaptonemal Complex

During meiosis, the formation of a large protein structure called the synaptonemal complex is essential. This complex functions like a bridge, holding paired chromosomes in place and facilitating the necessary genetic exchanges for proper chromosome separation into sperm and eggs.

Understanding Chromosome Separation

Bellmair emphasized that meiotic defects are a significant factor contributing to infertility. To better grasp how chromosomes separate into reproductive cells, the research team focused on the formation of the synaptonemal complex.

Prior Research and Mutations

Previous studies have examined various proteins comprising the synaptonemal complex and their interactions, identifying mutations associated with male infertility. The protein investigated in this study was found to be crucial for the complex’s structure, as it contains sections present in humans, mice, and other vertebrates.

Precision Gene-Editing and Infertility

To assess the impact of mutations on the protein’s function, the research team used precision gene-editing techniques to introduce mutations into one of the major proteins of the synaptonemal complex in mice. Only one mutation, predicted by modeling experiments, was confirmed to cause infertility.

The Significance of the Research

The researchers highlight the importance of their findings, describing the study as a form of microsurgery that focused on a specific region of the protein within the complex. They believe this region could be a significant factor contributing to infertility.

Sources

Source: Medical Express