A study has found new blood protein markers that help track premature ageing disease in children.
Hutchinson-Gilford progeria syndrome (HGPS) is a rare fatal genetic disorder which causes sufferers to age prematurely. In a new study in the journal Paediatric Research, scientists have identified protein biomarkers which can be used to assess how HGPS patients have reacted to treatment.
The disease affects one out of every 8million babies born. Babies with HGPS normally look healthy at birth, but show developmental problems within their first year. Although the children show intelligence levels consistent with their age, they seldom grow taller than one metre or weigh more than 14kg. They also have noticeable physical characteristics, such as lack of hair, prominent eyes, small chins, a lack of teeth and a loss of fat under the skin. Sufferers often die by their teenage years because of heart attacks, strokes or other issues related to the hardening of their arteries (a condition typically associated with the elderly).
The research was led by Leslie B Gordon of the Hasbro Children’s Hospital and Boston Children’s Hospital in the US.
In a previous study, Gordon’s group found that two years of treatment with the anti-cancer protein lonafarnib could benefit children with HGPS. This protein inhibitor helps them gain weight and lowers their risk of heart attacks.
“As with many diseases, there are no validated blood-related biomarkers for HGPS, and this presents a significant problem when measuring the effects of treatments employed within clinical trials,” Gordon explains.
In this study, the researchers set out to begin to identify specific protein-based biomarkers that researchers can use to gauge how their patients have progressed and if they have reacted positively to treatment.
Blood samples were obtained from 24 HGPS patients aged 3 to 12 years, who at the time of the study represented 10% of all children suffering from this syndrome. Samples were taken before and after the children were put on lonafarnib treatment. These were matched with those of healthy children of a similar age and sex. A single assay, called the RBM HumanMAP, was used to analyse participants’ blood plasma. This commercial platform measures the levels of a battery of 90 possible proteins.
Levels of more than 40% of the proteins tested were found to be significantly different in the HGPS samples than in non-HGPS control samples. These now need to be further investigated so that the most specific and relevant biological markers can be pinpointed and used further.
“The study represents an important step in achieving this goal. It uses an approach that assesses many proteins in a single assay that requires a minimum amount of sample volume,” says Gordon, who believes that this could also easily be used to help identify as yet unknown biomarkers for many rare and common diseases.