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Human MATER and Idiopathic Infertility

2014-08-27 03:43:08 | BioPortfolio

Summary

Approximately 15 percent of couples experience infertility, yet no abnormalities can be detected in the man or the woman. In a number of couples, their embryos unexpectedly slow down growth or stop growth completely. Some of these situations may be genetically determined. For instance, a portion of cases may be caused by poor egg quality related to genetic or functional deficiencies in heretofore unidentified human maternal effect genes. A model has been developed of such unexplained fertility by creating a mouse line lacking a critical maternal effect gene. (Maternal effect genes produce mRNA or proteins that accumulate in the egg and are required for normal early embryonic development.) This pilot project will test the hypothesis that a similar defect may be a cause of human infertility.

Thirty cubic centimeters of blood will be collected from 40 women who have a clinical history consistent with a defective maternal effect gene. DNA from these blood cells will be examined and stored. Some of the blood cells will be treated so that they can be frozen and grown in the laboratory to produce more DNA in the future. If certain mutations are not found, that means that the prevalence of such mutations is less than 10 percent, and investigators may initiate another study with 100 women. If a common mutation is found in at least four patients, the investigators will seek to collect DNA from 150 normal fertile control women for comparison.

This project is purely investigational; therefore, findings will not be shared with participants.

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Description

The pilot investigation will examine the hypothesis that human infertility may be caused by mutations in the human MATER gene. We will determine the prevalence of these mutations in a select group of women who have a clinical infertility history consistent with a possible defect in a maternal effect gene. After obtaining informed consent and DNA from 100 women, relevant mutations in the MATER gene will be searched for by single strand conformation polymorphism analysis.

Study Design

N/A

Conditions

Infertility

Location

National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda
Maryland
United States
20892

Status

Recruiting

Source

National Institutes of Health Clinical Center (CC)

Results (where available)

View Results

Links

Published on BioPortfolio: 2014-08-27T03:43:08-0400

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Medical and Biotech [MESH] Definitions

Inability to reproduce after a specified period of unprotected intercourse. Reproductive sterility is permanent infertility.

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A medical-surgical specialty concerned with the morphology, physiology, biochemistry, and pathology of reproduction in man and other animals, and on the biological, medical, and veterinary problems of fertility and lactation. It includes ovulation induction, diagnosis of infertility and recurrent pregnancy loss, and assisted reproductive technologies such as embryo transfer, in vitro fertilization, and intrafallopian transfer of zygotes. (From Infertility and Reproductive Medicine Clinics of North America, Foreword 1990; Journal of Reproduction and Fertility, Notice to Contributors, Jan 1979)

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