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.

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.

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