Genetic Condition Observed Only in Mice Discovered in First Patient

According to a report by medicalexpress.com, researchers recently discovered a new genetic condition. Though researchers previously described the condition in animals, no human evidence had yet been found. Michigan State University College of Human Medicine, in coordination with Spectrum Health, identified the disorder in humans for the first time. The condition is currently referred to by the mutation causing it known as ODC1. Keep reading to learn more, or follow the original story here for more information.

Looking Back on Mice

Roughly 20 years ago, researchers found evidence of the ODC1 condition in mice. Thomas G. O’Brien of the Lankenau Medical Research Center in Pennsylvania claims the original mouse model for the condition. Until recently it never appeared in human patients. If it occurred, it went unrecognized. The latest research detailing the condition in a human patient is available through the publication American Journal of Medical Genetics Part A. Still not much remains known about nature of ODC1. What has been identified is that it plays some role in physiological and cellular development. It appears to play some part in the development of embryos and organs.

What is ODC1?

ODC1 specifically refers to a gene known as ornithine decarboxylase 1. At this time, the condition identified by this mutation remains unnamed. As such, reports tend to refer to it by the responsible gene (ODC1). Mutations to ODC1 appear to have symptoms related to development. Examples include increased weight at birth, enlarged head or macrocephaly, loss of hair, skin lesions, hearing loss, and reduced muscle strength. Long term effects remain unknown as the condition has only recently been observed. The conditions impact on a patient’s neurological well-being also have yet to be documented.

Researchers currently suspect that an ODC inhibitor known as DFMO may provide a possible avenue of treatment. DFMO is water-soluble, and is already approved by the US Food and Drug Administration. It is considered a well-tolerated drug, and has already been in use for a number of years as a treatment for trypanosomiasis.

First Patient

The first patient observed with the ODC1 condition is an 11 month old female child. Doctors admitted and examined the patient at Spectrum Health Helen DeVos Children’s Hospital in Grand Rapids, Michigan. At the age of 19 months, and 32 months, doctors drew and examined blood samples for testing. As a control group for the patient, doctors observed two children which matched the patient in both age and gender. The two were considered healthy, and developmentally normal as they stayed at the hospital for an outpatient procedure.

Doctors describe this discovery as a “remarkable case.” It is the first of its kind and much remains to be learned.


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