Genetic disorder linked to infertility
Print Edition
Shanghai researchers have discovered the phenotypes and genes responsible for some causes of infertility in women.
Researchers from Fudan University and Shanghai Jiao Tong University identified four Chinese families with inherited female infertility and found a similar phenotype that their oocytes, or female reproductive cells, died before fertilization or within 20 to 30 hours after fertilization with sperm.
To understand the genetic cause behind the phenotype, they focused on Pannexin 1, a protein in humans that is encoded by the gene PANX1.
Pannexins are a protein family that plays an essential role in cell-to-cell communication. Identified more than a decade ago, PANX1 is involved in inflammation, infection and cancer progression. However, previously there was no convincing evidence to show mutations in this gene were responsible for any human diseases.
In frog and mouse models, researchers discovered four mutations in PANX1 that are associated with such reproductive cell death.
Researchers named the phenotype as 鈥渙ocyte death鈥 and identified it as a new Mendelian disease, a genetic disorder caused by a mutation in a single gene.
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