Japanese IPS researchers identify gene in retinal disease

IPS researchers identify gene in retinal disease
Date: Jun 14, 2014
Source: NHK World

A research group says it has succeeded in identifying a gene related to a serious retinal disorder by using stem cells created from a patient’s tissue.

The team led by Keio University Professor Hideyuki Okano created iPS, or induced pluripotent stem cells, with tissue taken from a patient suffering from retinitis pigmentosa.

The disease kills retinal cells and may result in loss of sight. No cure has been discovered.

The researchers reproduced the condition in a test tube by turning the iPS cells into retinal cells.

They say they found that a mutation of a gene called rhodopsin causes cells to die and allows the disease to progress.

The researchers also found that a type of cancer drug can reduce the function of rhodopsin and prevent the symptoms from worsening.

Professor Okano says iPS cells enabled the team to prove the causal relation between the gene mutation and the symptom.

He says the finding could lead to preventive treatments for people with mutated genes.

Keio University
Press Release: Jun 14, 2014 – 140614_1.pdf (Japanese)