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The genetic disease that kills children before the age of 3

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20 October 2015


'Of the 16 patients that we have found, only two are left alive.' Picture: NEFU

A senior doctor has urged couples from families who have suffered the disease to undergo tests before having children. The previously-unknown disease caused by mutations in multiple genes has hit the Yakut population in Siberia.

Of 16 children diagnosed with the condition, 14 have died - none of them reaching their third birthday, revealed genetic scientist Nadezhda Maksimova, of the North-Eastern Federal University. 

She told Ogonyok magazine it was 'a new, very severe disease which causes irreversible metabolic disorders in children', adding: 'Of the 16 patients that we have found, only two are left alive.' One of the two remaining children is to be sent to Japan for special tests. 

'The onset of the disease is observed at the average age of 4-to-5 months in the form of bronchial obstruction syndrome: noisy breathing, shortness of breath, coughing, high fever, heart beating against the backdrop of an acute respiratory infection. Such acute states tends to become more frequent and each time the child's condition worsened, there was an increase of heart failure, particularly lesions of heart valves,' she said.

Nadezhda Maksimova

Genetic scientist Nadezhda Maksimova, of the North-Eastern Federal University, is working on the genetic deceases for 25 years. Picture: Yelena Kudryavtseva

'We have carried out the whole genome sequencing at the University of Osaka and found specific mutations in the gene,' she said. Explaining the origin of the disease she said: 'We've discovered pathologies in people from completely different, unrelated families. 

'Imagine, people are different, while markers in their blood are one and the same. In this case, genetic scientists speak of a special 'founder effect.' In simple words, a long time ago there lived a man who had developed a mutation - he had a number of children, who help spread the defect. Today other people are the carriers of this gene and, as a rule, they do not even know about it.'

Problems arise when two people with the same hidden mutation start a family. 'In some cases, accurate diagnosis allows you to adjust the state, to slow the progression of the disease and alleviate symptoms,' she said. 



'We've discovered pathologies in people from completely different, unrelated families.' Pictures: NEFU

'Still, the main treatment is considered to be prevention. This means that when a person in the family had a genetic disease, it it is good to do a test before the planning children to find out whether he or she a is possible carrier of dangerous genes'.

If so, the couple should 'carefully decide about the next steps', she said. It was 'easier to discover' genetic diseases in isolated populations such as the Yakuts, living in Yakutia, also known as Sakha Republic, geographically the largest region in the Russian Federation.

Comments (1)

My heart hurts for these families. I hope that the great Russian scientific community finds a cure or at least a treatment for this disease. I hope my own country’s great scientific community can help in this extremely important cause. Children are our future, ALL OUR futures.
Will Miller , Ocala Florida
06/11/2020 09:25

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