Many times such facts come out in the research of medical sciences, which everyone is surprised to hear, a similar study was done by a research team, whose results are shocking.

Medical Mystery Solved: Scientists have achieved a new success in medical science. Thanks to a patient suffering from serious illness for many years, the disease of 30 such people has been detected, their disease was not detected despite many tests. A team of international researchers made a genetic diagnosis of 30 people, whose disease was not being caught for a long time. During this time, his medical tests were done many times.

Where was the study?

The study was conducted by Baylor College of Medicine, National University of Singapore and other institutions and published in the journal Genetics in Medicine.

What happened to the patient?

This patient had an unusual combination of rare problems. He had severe developmental problems and epilepsy among others. The special thing is that this patient did not even feel pain. In such a situation, this patient was quite different from normal.

What did the researchers say?

Dr. Daniel Calame, instructor of pediatric neurology and developmental neurosciences at Baylor College, said, "Despite many tests, this condition could not be diagnosed."

Calame and his team re-analyzed the patient's genetic and clinical data, which allowed them to access a gene called FLVCR1 and solve a medical mystery. The evidence so far suggests that the FLVCR1 protein plays an important role in the production of red blood cells and in the transport of choline and ethanol in cells.

Phosphatidylcholine and phosphatidylethanolamine are essential for cell membranes. These are essential for cell division and other essential cellular functions. Choline and ethanolamine are important for the formation of these two substances.

Research Results

Other researchers found that removing the FLVCR1 gene in mice led to death in their embryos. Those foetuses showed multiple head-and-limb bone malformations and decreased red blood cell production, similar to Diamond-Blackfan anemia (DBA), Calame said. But in our patient it was different from DBA.

DBA patients also have deformities in the bones. Interestingly, while FLVCR1 was thought to cause DBA in mice, it was not considered significant in patients with DBA. Other genes were found that caused this condition.

"We found one rare problem patient with the FLVCR1 mutation on the one hand and other patients with mutations in the FLVCR1 gene on the other hand, which had different problems," said Dr Daniel Calame.

These results have shown that mutations of FLVCR1 can cause various developmental problems, ranging from severe multi-organ development disorder to neuro-degeneration in adults. "We were pleased to learn that the 30 patients we were unable to explain their condition even though their condition had not been known for many years," Calame said.