Gene Linked to Nerve Degeneration, Infertility

Scientists have linked mutations in a gene associated with regeneration in damaged spinal cells with nerve degeneration and male infertility in mice.

They say the findings could eventually aid in the understanding and treatment of neurodegenerative disorders and infertility in humans. The investigators also point to a surprising link between regeneration and destruction in nerve cells, according to the report in the March 8th issue of Science.

Dr. Jian Zuo of St. Jude Children’s Research Hospital in Memphis, Tennessee, and his colleagues studied mutant mice that have been known for years to develop nerve degeneration that hinders their movement, sight and sense of smell. Males also have sperm abnormalities that make them infertile. Until now, the responsible gene has been unknown.

Zuo’s team was able to zero in on a gene known as Nna1, which is expressed in several types of body tissue, including the brain and sperm-producing testes. This gene, which has a human counterpart, is known to be activated when spine nerve cells are damaged.

But the researchers found that mutations in Nna1 were associated with the nerve degeneration and infertility seen in these mutant mice.

Zuo told Reuters Health that identifying the gene could open up new possibilities in treating infertility and degenerative conditions. For example, mutations in the gene might be related to retinitis pigmentosa, an inherited form of vision loss in which light-sensitive cells in the eye degenerate.

And if the gene is involved in degenerative conditions with more complex underlying causes, such as Alzheimer’s disease, studying its functioning further could identify new drug targets for these disorders.

But for now, “this is all speculation,” Zuo stressed.

He said further research will, among other things, look into the “pathway” in which Nna1 operates to identify molecules that could be potential drug targets.

Provided by ArmMed Media
Revision date: June 20, 2011
Last revised: by Jorge P. Ribeiro, MD