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Aurora magazine

Identified new genetic disease in a human patient

Researchers at Michigan State University College of Human Medicine have identified a new genetic disease in a human patient. The disease had already been described in animal models, but the doctors had not yet found a counterpart in our species.

The disease is caused by some mutations in the ODC1 gene and causes:

  • high birth weight;
  • big head;
  • hair loss;
  • reduced muscle mass;
  • skin lesions;
  • hearing loss;
  • delays in behavioral development.

In the long run, the disorder has consequences on the neurological system that are not entirely clear. The researchers are still examining them.

The finding is relevant because the genetic disease had been detected in mice 20 years ago. The gene involved plays an important role in a large number of physiological processes and also in embryonic development. According to the researchers, there may already be an effective drug against this disease. The DFMO inhibitor, an already approved drug, could at least act against some of the main symptoms. Soon a clinical trial will start to test it.

The DFMO drug has been used for years in treating trypanosomiasis, tropical diseases transmitted by insects. In addition, doctors are testing it for the treatment of pediatric neuroblastoma and colon cancer. In mice he stopped hair loss and made them partially regrow.

The first patient of the nameless disease is a three-year-old girl. The doctors examined the blood samples taken at 11, 19 and 32 months. They compared them with those of two children of the same age and of the same kind in health.