Peering into genetic defects, scientists discover a new metabolic disease

Peering into genetic defects, scientists discover a new metabolic disease

Scientists have discovered a new disease related to an inability to process Vitamin B12. The disorder is rare but can be devastating.

via ScienceDaily: Top Health News:

Sep. 5, 2013 — An international team of scientists, including University of Colorado School of Medicine and Children’s Hospital Colorado researchers, has discovered a new disease related to an inability to process Vitamin B12.The disorder is rare but can be devastating.”Some people with rare inherited conditions cannot process vitamin B 12 properly,” says CU researcher Tamim Shaikh, PhD, a geneticist and senior author of a paper about the new disease. “These individuals can end up having serious health problems, including developmental delay, epilepsy, anemia, stroke, psychosis and dementia.”The discovery is important because it could help doctors diagnose the disease and, eventually, could lead to prevention or treatment. But there is more to the story than that.A 9-year-old Colorado boy named Max Watson, who because of his metabolic disease uses a computer to communicate, was the first patient in whom this discovery was made.His older sister Abbey, 15, volunteered in the CU lab that helped achieve this medical breakthrough.His parents cooperated with the study knowing that the results likely would not help their son but might help future patients.The discovery, published today in The American Journal of Human Genetics, illustrates the complex and relatively new realm of medical discovery where researchers peer into the genetic make-up of patients to discern what went wrong to cause a disease.Vitamin B 12 also is called cobalamin. The new disease is called cobalimin X, or cblX.Obtained from foods such as milk, eggs, fish and meat, B 12 is essential to human health because it helps the body convert food into fuel. It’s vital to the nervous system and for making red blood cells.Max was born with symptoms that looked like he had a B 12 problem called cobalamin C deficiency or cblC for short, which, like its newly discovered counterpart, can show up in utero.The gene for cblC had been discovered by researchers who studied several hundred patients with similar symptoms. A few of those patients, however, did not have the genetic mutation that that was common to the cblC patients. And some, like Max, had symptoms that didn’t quite match up.”We knew from early on that something was unusual about this patient,” says Johan Van Hove, MD, a CU professor in the Department of Pediatrics, who saw Max when the boy was just a few months old.Max was labeled as having cblC — but Van Hove and others on a team of metabolism experts at Children’s Hospital Colorado had their doubts. Some of Max’s symptoms seemed too severe for that diagnosis.So Shaikh, an associate professor in the medical school’s pediatrics department, and CU colleagues, used what is called next generation genetic sequencing to delve into Max’s DNA. They also looked at genes of patients who didn’t fit the cobalamin C model, obtained from partners at the National Institutes of Health, and in Canada and Switzerland.All of those patients carried mutations that hadn’t been identified before. …

For more info: Peering into genetic defects, scientists discover a new metabolic disease

ScienceDaily: Top Health News

Peering into genetic defects, scientists discover a new metabolic disease

Utilizzando il sito, accetti l'utilizzo dei cookie da parte nostra. maggiori informazioni

The cookie settings on this website are set to "allow cookies" to give you the best browsing experience possible. If you continue to use this website without changing your cookie settings or you click "Accept" below then you are consenting to this.

Close