New Delhi, November 10 (IANS). Thanks to a patient who was suffering from a serious illness for years, the illness of 30 people whose illness was undiagnosed despite many tests, has been diagnosed. In this way a medical mystery has been solved.
An international team of researchers carried out genetic diagnosis of 30 people whose disease had gone undiagnosed for a long time. During this period, he had undergone medical tests several times. The study was conducted by Baylor College of Medicine, National University of Singapore and other institutions and published in the journal Genetics in Medicine.
This patient had an unusual combination of rare problems. He had severe developmental problems and epilepsy, along with many other health conditions. The special thing is that this patient did not even experience pain. In such a situation, this patient was very different from normal.
“Despite numerous tests, the condition could not be diagnosed,” said Dr. Daniel Calme, instructor of child neurology and developmental sciences at Baylor.
Calame and his team reanalyzed the patient’s genetic and medical data, which led them to a gene called FLVCR1 and an opportunity to solve a medical mystery.
Evidence to date suggests that the FLVCR1 protein plays an important role in the formation of red blood cells and the transport of choline and ethanolamine into cells. Phosphatidylcholine and phosphatidylethanolamine are important for cell membranes. These are necessary for cell division and other essential functions. Choline and ethanolamine are essential for the formation of these two substances.
Other researchers found that deleting the FLVCR1 gene in mice causes death in the embryonic stage. Those fetuses showed multiple malformations of the bones of the head and limbs and a reduction in the production of red blood cells, similar to Diamond-Blackfan anemia (DBA), Calame said. But in our patient it was different from DBA.
Bone deformities also occur in DBA patients. Interestingly, FLVCR1 was thought to cause DBA in mice, but it was not thought to be prominent in DBA patients. Other genes were found that cause the condition.
“We found, on the one hand, a patient with a rare problem with the FLVCR1 mutation, and on the other hand, other patients with mutations in the FLVCR1 gene who had different problems,” said Calame.
The team tried to find a solution and found rare variations of the FLVCR1 gene in 30 patients from 23 unrelated families.
These findings indicate that FLVCR1 mutations can cause a variety of developmental problems, ranging from severe multi-organ disorders to adult neurodegeneration.
“We are pleased to know that for those 30 patients we were able to provide an explanation for their condition, which had remained unknown for many years,” said Calame.
–IANS
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