Aberdeen experts make breakthrough in muscle disease

SCOTTISH researchers have discovered that poor blood flow in the body could be contributing to a devastating muscle disease in children.

Professor Simon Parson, chair in anatomy at Aberdeen University, lead a team including researchers from Edinburgh, Oxford and London . Picture: Wikimedia

Professor Simon Parson, chair in anatomy at Aberdeen University, lead a team including researchers from Edinburgh, Oxford and London who discovered that insufficient blood supply is likely contributes to motor neurone loss in the childhood disease, spinal muscular atrophy (SMA).

Spinal muscular atrophy (SMA) is the most common inherited cause of infant death in the world and affects one in 6000 live births.

Also known as floppy baby syndrome, SMA is usually diagnosed when infants fail to reach developmental milestones such as sitting unaided.

Life expectancy does not exceed three years in the most severe cases.

Prof Parson said: “SMA presents itself like a motor neurone disease so research and treatment has been focussed mainly around protecting motor nerve cells.

“But, we have shown that in SMA, the blood vessels that course through every structure in the body are also severely affected.

“Importantly, this results in reduced delivery of oxygen to the body, including the motor nerve cells which die in SMA.

“This new information provides us with an entirely new avenue for research and the development of potential therapies for this devastating disease.”

The paper, published in Annals of Neurology journal, suggests that expanding the focus beyond the nervous system to include the vascular system is important for developing effective treatments for the disease.

The findings were hailed as encouraging for thousands of families by Dr Marita Pohlschmidt, director of research for the charity Muscular Dystrophy UK.

She said: “SMA is a severely disabling condition, affecting both children and adults, with the most severe type tragically causing children to die in their early infancy.

“The results of this study are encouraging for the thousands of families living with SMA across the UK and beyond.

“SMA is a very complex condition not only affecting nerve cells but also other cell types, including those that form blood vessels and muscles.

“It is therefore crucial to understand the impact of the genetic defect of SMA on the function of these cell types, in order to develop effective treatments more quickly.

“The results presented in this paper helps us to get a significant step closer in understanding this better.”