Biomedical Laboratory Science

Tuesday, June 14, 2016

Written in Blood

A tour of evolving strategies for identifying circulating disease biomarkers

Blood is the only tissue that makes contact with every organ in the body. Theoretically, probing the DNA, RNA, vesicles, and cellular debris it carries could help diagnose or monitor conditions from placental disorders to Alzheimer’s disease.

The first application of this approach was prenatal genetic screening—which analyzes fragments of fetal DNA in an expectant mother’s blood—available to clinicians since October 2011. So far, these tests have largely focused on identifying chromosomal abnormalities such as Down syndrome. But expanding their utility to monitoring other circulating biomarkers, such as RNA and the contents of membrane-bound microvesicles and exosomes, is on the rise.

Down syndrome points to key gene responsible for type 2 diabetes

One of the key genes responsible for the onset of type 2 diabetes has been identified, opening up possibilities to develop a drug to combat the condition.

Key points

Onset of type 2 diabetes caused by failure of beta cells in the pancreas
Failure of beta cells also often seen in people with Down syndrome, who have an extra copy of chromosome 21
Comparison of beta cell genes on chromosome 21 and in people with type 2 diabetes narrows down one common gene called RCAN1

The discovery, published today in PLOS Genetics, was made by comparing genes involved with defects in insulin secretion of people with type 2 diabetes and those with Down syndrome.

Diabetes is the fastest-growing chronic condition in Australia with the preventable type 2 form accounting for 85 per cent of all cases.

Source: cdascher/Getty Images

Biomedical Laboratory Science