Mutant gene causing liver dysfunction identified

The discovery of the mutant gene could lead to a treatment for the disease as well as the prevention of the birth of defective babies.

By
September 3, 2012 04:29
1 minute read.
DNA strand double helix

DNA strand double helix 311. (photo credit: Jerome Walker)

 
X

Dear Reader,
As you can imagine, more people are reading The Jerusalem Post than ever before. Nevertheless, traditional business models are no longer sustainable and high-quality publications, like ours, are being forced to look for new ways to keep going. Unlike many other news organizations, we have not put up a paywall. We want to keep our journalism open and accessible and be able to keep providing you with news and analyses from the frontlines of Israel, the Middle East and the Jewish World.

As one of our loyal readers, we ask you to be our partner.

For $5 a month you will receive access to the following:

  • A user uxperience almost completely free of ads
  • Access to our Premium Section and our monthly magazine to learn Hebrew, Ivrit
  • Content from the award-winning Jerusalem Repor
  • A brand new ePaper featuring the daily newspaper as it appears in print in Israel

Help us grow and continue telling Israel’s story to the world.

Thank you,

Ronit Hasin-Hochman, CEO, Jerusalem Post Group
Yaakov Katz, Editor-in-Chief

UPGRADE YOUR JPOST EXPERIENCE FOR 5$ PER MONTH Show me later Don't show it again

A genetic defect that causes a rare disease that severely disrupts liver function has been identified by doctors at Schneider Children’s Medical Center. Their findings have been published in the American Journal of Human Genetics.

The doctors noticed 10 children and infants from four families in a single Arab village, all with an enlarged liver, a high level of blood fats and irregular liver function.

Be the first to know - Join our Facebook page.


Biopsies showed that they had “fatty livers,” a condition that usually occurs in the obese, and fibrosis of the liver.

A Schneider research team, which received cooperation from experts in Canada, reached the conclusion that the disease involved the glycerol- 3-phosphate dehydrogenase 1 gene. This resulted from consanguinity (inbreeding of first cousins), which is common in this particular Arab village.

The normal gene has a significant role in creating blood fats and sugars, and running the cycle of intracellular energy. The doctors found that liver cells in which many copies of the defective gene are stored release more triglycerides – a type of blood fat caused by too much sugar – than liver cells with many copies of the normal gene.

The discovery of the mutant gene could lead to a treatment for the disease, as well as the prevention of the birth of defective babies through genetic counselling or pre-implantation genetic diagnosis (PGD) and then invitro fertilization outside the body.

Related Content

Lab
August 31, 2014
Weizmann scientists bring nature back to artificially selected lab mice

By JUDY SIEGEL-ITZKOVICH