Gene mutation increases disorders risk tenfold

A rare gene mutation that increases the risk of developing schizophrenia or bipolar disorder more than tenfold has been identified by medical scientists at Trinity College Dublin.

The researchers said Irish people are “more closely related” than other populations, allowing them to pick up on the mutation in Irish descendants of the person from Northern Europe they believe brought the mutation here in the first place.

Aiden Corvin, professor in psychiatry at the School of Medicine at Trinity and head of the Psychosis Research Group, said the Irish population may be advantageous for this type of gene discovery programme.

“Because of the population history of Ireland, we as a people are more closely related than in more diverse populations, so we were able to pick up on this mutation in the Irish descendants of this person,” said Prof Corvin. “We believe more is to be found in the Irish population and this will help us to reach a more general understanding about the nature of these disorders.”

Scientists examined blood samples from more than 1,564 Irish people with schizophrenia and 1,748 people without to look for small structural variations where genetic material is duplicated or deleted in the genome. They identified five patients where part of a gene called protein-activated kinase 7 was duplicated. Such duplications were not found in the control group.

Once the mutation was identified, researchers were able to check for it in schizophrenia and bipolar disorder samples from a European sample of more than 25,000 people. This confirmed that the duplication, although rare, increased risk of developing schizophrenia or bipolar disorder more than tenfold.

The duplications appeared similar in all cases and the authors found the duplication carriers are all likely to share a single mutation inherited from a distant, common European ancestor.

Prof Corvin said the finding “demonstrates the power of gene discovery to provide new insights into poorly understood but potentially devastating disorders”.

© Irish Examiner Ltd. All rights reserved

More in this Section

Apple tax issue may end the coalition romance

50 soldiers sue over malaria medicine

First all-Ireland luxury sleeper train begins week-long rail tour

Cork GP to face sanctions after ruling


Breaking Stories

PSNI search country park in Royal Marine terror probe

Injured US tourist, who felt she was 'being held hostage' by Irish healthcare system, airlifted home

Man due in court in connection with seizure of suspected stolen goods

A quarter of the electricity used in Ireland is now renewable

Lifestyle

James Nesbitt and Hermione Norris on why the time is right for the return of Cold Feet

Get a Fair Deal with costs of care homes for elderly

Pablo Escobar’s life on the line in Narcos season two

How to buy the perfect laptop for college

More From The Irish Examiner