Scientists have discovered that male fertility related genes and mutations will lead to azoospermia.
surging news reporter Wu Yuewei
infertility is the pain of some families. In the early morning of May 26, 2017, a research paper published online in the world's top academic journal Cell showed that a gene directly related to male infertility was found. The three mutations of this gene, Piwi (Hiwi), can cause men to not produce mature, energetic, qualified sperm, "azoospermia", causing male infertility. The research results will bring new opportunities for clinical treatment.
the author of the paper is Liu Mofang, a researcher at the Institute of Biochemistry and cell biology, Chinese Academy of Sciences, and researcher Shi Huijuan of the Shanghai Institute of family planning science.
the discovery of a new gene mutation in the body of male infertility
the paper says the Piwi family's protein is conservative throughout the history of biological evolution, with this protein in nematodes, fruit flies, fish, mice, and human bodies. But this protein exists only in the germ cells of these organisms.
sperm production and maturation process. The pictures were provided by the Liu Mofang group
from 1998 to 2008, and scientists' studies on nematodes, fruit flies, fish and mice showed that the protein of the Piwi family was crucial to the maturation of germ cells.
but in the human body, in the process of sperm maturation, what role did the Piwi family proteins play?
a human Piwi gene is known as Hiwi gene, which encodes HIWI protein.
Liu Mofang and Shi Huijuan led the researchers to gene detection of 413 patients with primary azoospermia and asthenospermia. They found three mutations in the Hiwi gene of three patients, corresponding to the HIWI protein: R218A/L221A (patient 1), L221G/N225H (patient 2), L221R (patients). 3).
researchers found that if these mutant genes were "knocked" in the genome of the mouse, male mice would be infertile, with abnormal sperm morphology, loose head structure, and inactive, completely consistent with the disease phenotype of human patients. This means that these mutations in the Piwi (Hiwi) gene can directly lead to male / male sterility. After
"replacement", the mutation of the spermatozoon
Piwi (Hiwi) gene, why is the sperm morphologic malformation, poor vitality, and male infertility?