Spanish and Swedish scientists have discovered a genetic mutation responsible for pathology, which only presents in the world three brothers of Libyan descentan investigation that also served to better understand a different and more frequent disease, diabetes.
Although it is a "lab investigation," it raises the question "a possible new way to attack diabetes", the scientists say. The brothers, residents of Sweden were born in 2005, 2009 and 2014. and their parents are familiar with each other. Since their first day of life, they have had "too high" levels of lactic acid and "very low" levels of the amino acid methionine. "They were treated from the beginning and although they might have a muscle problem at first, they are now practically uncomplicated"the scientists said.
To investigate the case, the researcher at the Karolinska Institute in Sweden, Anna Veelde, contacted the Spanish scientist Alfredo Gimenez-Cassina of the Center for Molecular Biology at the North Ocean of the Autonomous University in Madrid. At both centers, the family is genetically tested, indicating "abnormal metabolic abnormalities in the blood," Gimenez-Casina explained.
The mutation is completely unknown
That's what they were biopsy the skin and muscles; From Stockholm, they sent cell samples to Madrid and the researchers identified a genetic mutation, never described earlier, which provokedcomplete disappearance of a protein called TXNIP"which in turn causes high levels of lactic acid and what does it mean?
This protein is also associated with problems in regulating blood sugar levels, as previous studies have shown that diabetics have high levels of TXNIP.
– Thanks to this disease we can predict what side effects treatment may have based on the inhibition of this protein, i. e. the increase in lactic acid, says the researcher who stressed that "we now have a great advantage: we know that inhibition is not lethal."