The tiny “recycling unit” at the core of every human cell can fail, and research is increasingly placing this malfunction at the root of a host of common deadly illnesses.
Alzheimer’s disease, stroke, heart disease and certain cancers can all be linked to a dysfunction of the lysosome, says South Australian biochemical geneticist Professor John Hopwood.
“You might think these lysosomal diseases are uncommon but in fact we’ve been studying the tip of an iceberg,” Prof Hopwood says.
“The more we study these disorders … it turns out the lysosome has a big role to play in many illnesses that the community has.”
Lysosomal disease is a process which sees affected human cells lose their ability to create new versions of themselves, instead becoming clogged as genetic “material gets into the recycler but can’t get out”, Prof Hopwood explains.
His team at Adelaide’s Women’s and Children’s Hospital led the development of world-first treatments for two rare lysosomal diseases – Maroteaux-Lamy and Hunter syndromes.
These and other Lysosomal disease occur in one in every thousand children and it results in developmental delays, bone deformities, heart and breathing difficulties, behavioural problems and a shortened life span.
Prof Hopwood has also developed a test able to highlight these genetic conditions in newborns, allowing treatment to get underway before irreversible features develop.
While his work has focused on treating children with these rare conditions, Prof Hopwood says the field’s future would also go to unearthing the links between lysosomal disorders and common diseases.
In the brain, the disorder was known to lead to the loss of brain matter which, over time, could manifest as Alzheimer’s or dementia.
“Where you have heart failure because a valve doesn’t function properly, it may be due to poor signalling by control systems that are influenced by these lysosomal storage disease problems,” Prof Hopwood says.
“So these rare diseases give us an insight into the ‘berg’ part of the ‘iceberg’, which is affecting the majority of us.
“And if we can understand how it contributes then we can reduce the impact of all of these disorders in the community.”
The Australian Academy of Technological Sciences and Engineering (ATSE) paid tribute to Prof Hopwood for his 25 years work in the field at a gala event in Sydney on Wednesday night.
He was announced as one of the recipients of a 2009 ATSE Clunies Ross Award, which recognises the nation’s pre-eminent scientists who have bridged the gap between research and the marketplace.