Familial Infertility and Mutant ZP1

Dr. Hong-Mei Xiao  M.D.,Ph.D. Cognition Section Professor of Gynecology,Reproductive Medicine                              The Institute of Reproduction and Stem Cell Engineering Xiangya School of Medicine, Central South University Vice director, Reproduction and Genetics Hospital of CITIC-Xiangya China, Changsha, Tel: 86-731-84373557(O)MedicalResearch.com Interview with:
Dr. Hong-Mei Xiao  M.D.,Ph.D.
Cognition Section
Professor of Gynecology,Reproductive Medicine
The Institute of Reproduction and Stem Cell Engineering
Xiangya School of Medicine, Central South University
Vice director, Reproduction and Genetics Hospital of CITIC-Xiangya
China, Changsha

MedicalResearch.com: What are the main findings of the study?

Dr. Xiao:  The study presents the first cases of human primary infertility due to mutation in a zona pellucida gene. We have identified a homozygous frameshift mutation in ZP1 ( GenBank accession number, KJ489454) resulting in the aberrant ZP1, which affects the formation of zona pellucida. We detected an autosomal-recessive pattern of inherited infertility.

MedicalResearch.com: Were any of the findings unexpected?

Dr. Xiao:  This is the first discovery that infertility caused by mutations ZP1. It’s unexpected that the phenotype of patients with mutant ZP1 does not match what has been previously seen in the mouse knockout model.

MedicalResearch.com: What should clinicians and patients take away from your report?

Dr. Xiao: This ZP1 mutation found in infertility, will contribute to greater attention to the zona pellucida abnormalities and its causes. Furthermore, it presents an entirely new realm of possible explanations for rare infertility causation.

MedicalResearch.com: What recommendations do you have for future research as a result of this study?

Dr. Xiao:  We will explore the mechanism of preventing the formation of the zona pellucida around the oocyte by mutant ZP1, and may also discuss the treatment of the infertility patients, both traditional from our existing skillset and innovational therapeutic regimen. We will track whether homozygous male fertility is affected, although ZP1 is not among the 164 genes that have been found to affect male fertility.

Citation:

A novel homozygous frameshift mutation in ZP1 in infertility.
Hua-Lin Huang, M.D., Chao Lv, M.D., Ying-Chun Zhao, Ph.D., Wen Li, Ph.D., Xue-Mei He, M.D., Ping Li, M.D., Ai-Guo Sha, M.D., Xiao Tian, Christopher J. Papasian, Ph.D., Hong-Wen Deng, Ph.D., Guang-Xiu Lu, M.D., Hong-Mei Xiao, M.D.,Ph.D.

The New England Journal of Medicine

Published ahead of print: March 27 2014

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