New hope for patients with an inherited form of diabetes

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By Miranda Hunt
November 19, 2006 EAST

Mater Pathology are now offering a new genetic screening service that can diagnose a rare form of diabetes, Mature Onset Diabetes in the Young (MODY), that affects around 7,000 people in Australia.

MODY is caused by single gene disorders that interfere with the way Beta Cells produce insulin, which is different to Type I (Beta Cells are destroyed) and Type II Diabetes (combined insulin deficiency and insulin resistance).

According to Mater Children’s Hospital Paediatric Endocrinologist, Dr Mark Harris, it can be difficult to diagnose this type of diabetes without performing a genetic screening test on patients.

“We come across a small number of patients that don’t quite fit the mould of Type I or Type II Diabetes but they are started on insulin injections because we know that this form of treatment will be effective regardless of the exact type of diabetes.”

“However if there is a history of diabetes extending over three generations there is a possibility that the condition is MODY, which has significant implications for the patient as other family members.”

“The condition is inherited in an autosomal dominant fashion (one altered copy of the gene is sufficient to cause the disease) so 50% of the patient’s siblings are likely to develop the same type of diabetes.”

“You can only accurately diagnose this type of diabetes through a genetic screening test and once MODY has been identified, then you can trace through the family tree and identify other family members with the condition, which also has important implications for future children, he said.”

In the past, this genetic screening test to diagnose MODY was previously only available overseas, which meant the process was often lengthy and costly to patient’s families.

However, Mater clinicians will now be able to readily access this test through Mater Pathology.

Implemented a couple of months ago, Mater Pathology is the only facility in Australia which is offering this type of service.

Once diagnosed, a young patient with this type of diabetes will be able to control their condition by taking a tablet as opposed to daily injections which will ultimately change their lives for the better.

The tablet stimulates the Beta cells to produce insulin which replaces the need for injections, particularly if the condition is picked up at an early stage.

For further information about the new genetic screening service for MODY please contact the Director of Chemical Pathology, Dr. David Cowley at Mater Pathology on (07) 3840 8500. Referring physicians will be asked to complete a patient profile before genetic testing is carried out. This is obtainable from the Mater Pathology website, www.mater.org.au/pathology

May 07, 2008 EAST. Webmaster

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