Quick Dips

Developing a DNA Test

Massey University molecular geneticists and Mid-Central Health anaesthetists are hunting for a DNA test for the genetic disorder Malignant Hyperthermia (MH).

MH, a syndrome triggered by exposure to anaesthetic drugs, is regarded as the most common cause of death from anaesthesia in otherwise fit individuals. If undiagnosed prior to anaesthesia, it can cause a rapid rise in body temperature as a result of increased metabolic activity. There are a range of outcomes for the patient, including kidney failure, mental and physical disabilities and, in 15% of the cases, death. Within New Zealand, there are at least 19 extended families known to have MH-susceptible members.

Current diagnosis of MH-susceptible individuals uses muscle biopsy testing which is painful, debilitating and can have long-term side effects. Many patients cannot be tested by this method due to insufficient muscle tissue and, moreover, the results are often inconclusive.

Barry Scott, head of Massey's Molecular Genetics Unit, said that the work will ultimately lead to the development of a simple DNA-based screening test with which to diagnose MH-susceptible patients and eliminate the invasive biopsy test currently in use.

"This work is currently in its infancy, and there is much research still to be undertaken, but we know that the implementation of a simple screening test will herald great relief for patients and anaesthetists alike," Scott says.

The team has begun the search for mutations in several genes implicated in MH-susceptibility and have received a $7,500 boost for their research courtesy of Glaxo Pharmaceuticals Ltd.