About My Health Careers Internship MedBlogs Contact us

Gene Linked to Kidney-related Birth Defects Identified

by Hannah Joy on September 25, 2017 at 1:09 PM
Font : A-A+

Gene Linked to Kidney-related Birth Defects Identified

A new gene called GREB1L identified was found to be associated with rare and often fatal kidney-related birth defects, reveals a new study led by University of Iowa.

The newly discovered mutated gene is called GREB1L. It is associated with renal agenesis, a hereditary condition in which children are born with either one kidney or no kidneys at all.


Children born with a single kidney, a condition called unilateral renal agenesis, generally live, but they often encounter other health problems, including hypertension and early kidney failure. Children born without kidneys do not survive.

John Manak, associate professor in biology, says the finding allows for families carrying the mutation to be told in advance whether their children are at risk of inheriting the disorder.

"Essentially, it's a way to determine early on whether the child will likely be born with the disorder or be born healthy," says Manak, corresponding author on the paper.

"Imagine the relief the parents would feel in the latter case. In fact, based on our work, we already know that additional families have been identified that harbor mutations in this gene, and they can now be better informed about the disorder affecting them."

Manak, associate professor in biology, and Patrick Brophy, professor in pediatrics and a co-author on the paper, teamed up to identify the GREB1L gene. Brophy, who's long been interested in renal agenesis, collected DNA samples from an Iowa family with the condition.

Manak's lab performed whole-exome sequencing, meaning the researchers searched the protein-coding sections of the family members' genomes, which comprise just 2 percent of a person's genetic blueprint.

After narrowing the search to a small slice of the genome, the researchers weeded through tens of thousands of genes before finding the GREB1L mutation and determining the defect appeared in each family member with the disorder. While that was promising, Manak's team wanted further proof, so the researchers obtained GREB1L-mutated zebrafish embryos, which are transparent and develop organs in just days. The team saw that zebrafish with the mutated gene failed to properly develop kidneys in the earliest stages.

Next, the researchers introduced the mutated gene in mice using the CRISPR-Cas9 technique, which enabled them to instruct the mice's genomes to create the mutated gene on command rather than waiting for it to be passed down through generations. Like the zebrafish, mice carrying the GREB1L mutation were born with either one functioning kidney or none at all.

"That tells us this gene is associated with this disorder, unequivocally," Manak says.

A second family, from Denmark, also was found to carry the GREB1L mutation, solidifying the gene's role in renal agenesis in humans.

Other mutated genes have been linked to renal agenesis, but what makes GREB1L particularly interesting is its hierarchal role in how genetic instructions are passed along in kidney development.

Much like a quarterback calling a play for a football team, the GREB1L protein activates a cascade of signals that ultimately tell various individual genes what they need to do to create a functioning kidney.

While some of these individual genes, if mutated, could cause a kidney to develop improperly, a damaged GREB1L affects the entire kidney-development process because it sends the first, all-important command.

The paper, "A gene implicated in activation of retinoic acid receptor targets is a novel renal agenesis gene in humans," was published in the journal Genetics.

Source: Eurekalert

News A-Z
News Category
What's New on Medindia
First-Ever Successful Pig-To-Human Kidney Transplantation
World Osteoporosis Day 2021 -
Spirituality and Mental Health
View all

Medindia Newsletters Subscribe to our Free Newsletters!
Terms & Conditions and Privacy Policy.

More News on:
DNA Finger Printing Club Foot Birth Defect - Genetic Birth Defects Drug-Induced Birth Defects Environmental Birth Defects Birth defects - Infections Multifactorial Birth Defects Birth Defect - Structural Defects Klinefelterīs Syndrome 

Recommended Reading
Children With Renal Failure Need An Early Kidney Transplant
Two boys were successfully treated for kidney transplant at the Kavery Hospital, Chennai....
Even Damaged Kidneys can be Used for Transplants
Yale University has conducted a study that revealed that injured kidneys from deceased donors are .....
Pulmonary Embolism Detection Improved by MRI Techniques
Adding two magnetic resonance imaging (MRI) sequences to a common MR angiography technique boosts .....
Too Much Salt Not Good!
The World Action on Salt and Health (WASH) has sponsored the World Salt Awareness Week, March 21 to ...
Birth Defect - Genetic
Achondroplasia is a genetic disorder which is one of the leading causes of dwarfism ...
Birth Defect - Structural Defects
A structural birth defect means that a specific body part is missing or mal-formed during the embryo...
Birth Defects
Birth defects are abnormalities that occur in babies which affect how the body looks, works or both....
Birth Defects - Infections
Birth defects are abnormalities, which occur before the birth of the baby and can be caused due to g...
Club Foot
Clubfoot is a congenital foot deformity affecting the shape or position of one or both feet. Around ...
DNA Finger Printing
DNA fingerprinting is a technique which helps forensic scientists and legal experts solve crimes, id...
Drug-Induced Birth Defects
Birth defects are abnormalities of function, structure or metabolism that are present since birth. T...
Environmental Birth Defects
Birth defects caused due to environmental teratogens like drugs, microorganisms or exposure to radia...
Klinefelterīs Syndrome
Klinefelter''s Syndrome is the most frequent sex chromosomal genetic disorder and is caused by the p...
Multifactorial Birth Defects
Encyclopedia section of medindia gives in brief General Info about About Multifactorial Birth ......

Disclaimer - All information and content on this site are for information and educational purposes only. The information should not be used for either diagnosis or treatment or both for any health related problem or disease. Always seek the advice of a qualified physician for medical diagnosis and treatment. Full Disclaimer

© All Rights Reserved 1997 - 2021

This site uses cookies to deliver our services. By using our site, you acknowledge that you have read and understand our Cookie Policy, Privacy Policy, and our Terms of Use