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A new genetic disorder has been discovered by US researchers in a human patient. The disorder, which is caused by mutations in a gene known as ornithine decarboxylase 1 (ODC1), has only been described previously in animal models.
The study was made by researchers from Michigan State University and published in the American Journal of Medical Genetics Part A.
"This remarkable case represents the first human example of a disorder described by researchers in a transgenic mouse model more than 20 years ago," said Andre Bachmann, a professor at the university.
Symptoms and effects of the genetic abnormality:
The discovered genetic mutation is defined by a number of clinical features, including:
- weight at birth
- enlarged head size
- hair loss
- reduced muscle strength
- skin lesions
- hearing loss
- development delays
The discovery is very new and not only does the disorder have no name yet, but scientists still do not know exactly what long-term effects it could have on the human body, especially on the neurological system.
Why is the ODC1 gene important for humans?
"The ODC1 gene plays a role important role in a number of physiological processes and cellular development, including the development of embryos and organsSaid Caleb Bupp, a medical geneticist at Spectrum Health, a US-based health care company.
About the study identifying the new genetic disorder:
- The disorder was identified for the first time on an 11-month-old girl in Michigan.
- In the study, blood samples for the tests were taken at the age of 19 months and 32 months
- Two developmentally normal, age-matched patients who were sedated for ambulatory procedures on the same day served as controls.
- The red blood cells obtained in the patient showed high levels of ODC protein and polyamine compared to healthy controls
How to treat this new genetic disease?
The study conducted by researchers at Michigan State University also showed that the ODC protein inhibitor, DFMO, an FDA-approved drug (Food Drug Administration), can serve as a disease-modifying drug . In a new diagnosis of this genetic disease, an early therapeutic trial of the drug DFMO may prevent some clinical symptoms.
DFMO has been used for many years in the treatment of trypanosomiasis – a tropical disease transmitted by biting insects and, more recently, clinical trials of pediatric neuroblastoma and colon cancer.
In the mouse, DFMO prevented hair loss and partially restored hair growth and is considered a well-tolerated drug. The original ODC1 mouse model was developed by Thomas G. O. Brien in 1995 at the Lankenau Medical Research Center in Pennsylvania.
(With the contributions of IANS)
Read: 10 unusual genetic disorders in humans that you will not believe to be real
Read: Doctors in Manipal discover new genetic disease
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