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A major cause of rare mitochondrial disease found

A study from the Murdoch Children’s Research Institute (MCRI) has found a genetic cause for a rare disease that causes children to be born with a fatal heart muscle disease.

The research was published in Med and found that disruptions in the ATAD3 gene cluster caused fatal heart failure shortly after birth, but as the gene disruptions occur spontaneously, parents have a low risk of having another child with the same disease.

Mitochondrial diseases can be caused by a genetic fault in any one of around 350 known genes and severely affect at least one in 5000 people. Mitochondrial disease can affect single organs or whole-body systems and are often fatal. Existing treatments are not effective in delaying disease progression meaning most children with mitochondrial diseases do not reach adulthood.

The research was led by Professor David Thorburn and other senior MCRI genetic researchers, where they re-examined genomic data from 15 babies from families in Australia, Japan, New Zeland and the Netherlands.

Explaining the finding, Professor Thorburn said: “The ATAD3 gene cluster lies within a genetic region where repeating DNA letters complicate even the latest genomic diagnosis methods. This explains why standard genetic screens have missed ATAD3 mutations in the past”.

The team used a combination of advanced gene and protein technologies to show that ATAD3 genes mistakenly repeat themselves, and the duplications cause a faulty protein that disrupts normal ATAD3 function, resulting in fatal heart failure near birth.

Although incurable, the study can provide some hope for families to have the confidence to have another baby after having lost a child to the disease. It also provides insight into the unknown role of ATAD3 in this fatal disease and highlights the importance of continual improvement in screening capabilities.

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