Gene for Anencephaly Discovered: new study uncovers the genetic cause of Anencephaly

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Researchers and scientists have found that a defect in the genetic code of one key enzyme may be responsible for anencephaly, a fatal birth defect that involves failure in fetus brain development. The discovery of the gene involved in anencephaly may offer advantages in diagnosing (genetic testing) and even for developing appropriate therapies for this fatal genetic disorder.

The study

The new study, published in the October 2008 issue of prestigious Journal of Molecular Endocrinology was led by Geula Gibori, professor of physiology and biophysics from University of Illinois at Chicago College of Medicine. According to the findings, between one to two thousand children are born, each year in the United States, with this genetic disorder.

Using specially bred mice, researchers were able to identify a gene called HSD17b7 as the one responsible for anencephaly. Mice lacking the gene, which produces an enzyme, died after 10 days of gestation because they were not able to develop their brain. This condition was similar to the birth defect in humans.

Also, scientists showed that HSD17b7 expression in the fetal brain is key for brain development.

Implications for humans

Although this research was conducted on mice, it opens up the possibility to further investigate anencephaly in humans. In fact, Gibori believes (as stated in the paper) that although the gene that is missing or defective in human anencephaly is not yet known, the discovery of the defect in the genetic code of HSD17b7 in mice may suggest that a defect in the human HSD17b7 gene may be the cause of human anencephaly.

The next logical step in human anencephaly research is to test affected human anencephalic tissue for the mutation in the HSD17b7 gene. Gibori’s lab has started to work on this already. Researchers believe that this will be of paramount importance to develop a genetic test for the anencephaly in humans (early in women’s pregnancy) and in developing new therapies for this fatal rare birth defect and genetic disorder.

Genetics is advancing at giant steps in discovering the genes responsible for many conditions. As we go forward with the understanding of the human genome we will see many developments that will undoubtedly have a positive impact in our society.


Journal of Molecular Endocrinology.

This post is part of the series: New Genetic Research

Find out what is new on the genetic research frontier. New genetic research. New Diseases discovered with genetic basis. Genetic abnormalities that cause genetic diseases. Mutations in genes related to diseases

  1. New Genes Associated with Esophageal Cancer Discovered
  2. Cancer Patient´s DNA Sequenced for the First Time in History
  3. Genes Identified In Infantile Hemangioma, The Most Common Childhood Tumor
  4. Gene Discovered for Anencephaly, a Fatal Birth Defect
  5. Childhood Cancer Neuroblastoma Gene Discovered
  6. Genes Linked to Lung Cancer Adenocarcinoma Discovered
  7. The Genographic Project
  8. Gene Therapy for Cancer