A 20-year quest into the cause for IMAGe syndrome, a rare disorder that stunts infants’ growth, has led researchers to the same gene mutation that causes Beckwith-Wiedemann syndrome, which makes cells grow too fast, leading to very large children.
Lewis Carroll once wrote in Alice’s Adventures in Wonderland: The Caterpillar got down off the mushroom and crawled away in the grass, remarking as it went, ‘One side will make you grow taller, and the other side will make you grow shorter.’ Now, researchers from the University of California, Los Angeles seem to have found genetic rationale behind this fairytale event, finding that the same gene is responsible for both rapid growth and a stunt in growth.
The research has been published in Nature Genetics, and document s how the UCLA findings could lead to new ways of blocking the rapid cell division that allows tumours to grow unchecked. The discovery also opens up previously unfounded ways of diagnosing children with IMAGe syndrome.
Principal investigator Dr. Eric Vilain, a professor of human genetics, pediatrics and urology at the David Geffen School of Medicine at UCLA started the research 20 years ago after he cared for two boys who were dramatically short for their age. Though unrelated, both children shared a mysterious malady marked by minimal fetal development, stunted bone growth, sluggish adrenal glands, and undersized organs and genitals.
Dr Vilain said:”I never found a reason to explain these patients’ unusual set of symptoms.
“I’ve been searching for the cause of their disease since 1993.”
Dr Vilain joined Dr. Edward McCabe in researching the rare and curious condition. The researchers approached the Journal of Clinical Endocrinology and Metabolism, and in 1999 published the first description of the syndrome. Around 20 cases were reported in the decade after, but the cause still remained a mystery.
A family was found in South America that all shared the symptoms described by Dr Vilain, and when DNA samples were analysed, he realized that he had stumbled across the scientific equivalent of winning the lottery.
After years of testing, they proved that Vilain and his colleagues had identified the correct mutation, bringing his 20-year odyssey to a successful end. “Our findings leave no doubt that this set of symptoms is a true syndrome and not just a figment of my imagination,” said Vilain.