Breakthrough on genetic disorder

Researchers hope a breakthrough in understanding a severe genetic disorder that has plagued at least five generations of a New Zealand family may eventually lead to a treatment for the disorder and have application to other disorders.

University of Otago researchers today announced an alteration in a particular gene had been identified in members of the family.

The disorder causes severe short-sightedness in males and females and some males also have autism and intellectual disabilities.

The findings are to be published this week in the international journal Proceedings of the National Academy of Sciences.

A damaged "calcium channel gene" altered the functioning of a pathway converting light in the eye into nerve messages in the brain.

Molecular geneticist Marion Maw said it was not surprising vision was impaired in family members.

The project had been running since 1998 but the work was by no means complete, Dr Maw said in a statement.

"We still need to find out precisely how the damaged channel causes each of the clinical symptoms.

"Pharmacological agents already exist that are known to block the activity of calcium channels.

"We want to investigate whether such agents could be used to develop a treatment for this rare disorder," she said.

Patricia Lundon-Treweek, a member of the affected North Island whanau and co-author on the study, is herself affected by the disorder.

Two of her three children have inherited the condition.

The researchers say although the disorder is very rare, they hope future studies might provide insights of more general importance.

In particular, two of the symptoms in the present family, high myopia (short-sightedness) and autism, are common disorders in the general population.

- NZPA