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© Mariana
Bazo / Reuters
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Fourteen children in
Yakutia have died of a previously-unknown disease caused by mutations in
multiple genes.
The illness kills kids before they turn three as it progresses rapidly and
there's no cure so far, according to the scientist who discovered it.
In
total 16 children have been diagnosed with the genetic illness, says Nadezhda
Maksimova, head of a Yakutsk laboratory at the North-Eastern Federal University
who discovered the deadly disease.
"We
are currently studying a new, very severe disease which causes irreversible
metabolic disorders in children who don't survive beyond three years of age. Of
the 16 patients that we have found, only two are left alive," she told Ogonyok magazine.
RT report continues:
To
study the decease, one of the surviving tots is to be sent to Japan, with
parents having launched a fundraising campaign.
Sending
blood samples to a Moscow laboratory for analysis is a real challenge,
Maksimova said. Samples have to be carried very carefully in a vacuum container
that needs to be protected from shaking so as not to destroy the enzymes. And
since Russian laws prohibit the sending of samples for analysis abroad, it is
easier to send the patient instead.
“We
have carried out the whole genome sequencing at the University of Osaka and
found specific mutations in the gene. I think this is a big step forward to the
[creation] of treatment,” Maksimova told the Russian magazine.
In
fact, it's the third genetic disease discovered by the prominent Russian
genetic scientist. In 2005 and 2010 she identified two other deadly disorders –
the SOPH syndrome, which damages children's optic nerves so badly they eventually
become blind, and the so-called “Yakut short stature syndrome” (the 3-М
syndrome), which causes severe growth retardation, dysmorphic features and
skeletal changes in the newborns.
To
come up with the diagnosis of a genetic disease is harder than it sounds, with
scientists spending years on clinical and scientific studies.
“Our discoveries were preceded by nearly 25
years of medical and genetic counseling, with expeditions sent to the regions.
Genetics first visited Yakut villages with other doctors before they began to
come by independently. We examined people with hereditary diseases at the site
and invited them to come along with their families for further examination in
town. All this has provided the basis for further research,” Maksimova says.
“Then,
during the second stage, scientists need to sequence the genome of a patient,
and – ideally – to find the gene responsible for this or that 'failure’. But
this is only possible in case when one gene is responsible for the disease. As
a rule, it's not so simple, however.”
There
are over 6,000 known genetic disorders in the world. According to Maksimova,
there's currently treatment for only about 10 or 15 of them. But contrary to
popular belief, not only close relatives usually fall prey to genetic diseases.
“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.”
For
the disease to become evident, one such carrier has to meet another person with
the same hidden mutation and then give birth to a baby. To trigger the “founder
effect” process, two people with one and the same broken gene have to meet up,
Maksimova explained.
Maksimova
says though there are a number of reasons that trigger genetic disorders, the
DNA analysis can only help understand when a particular mutation emerged, but
not what caused it.
“The genome of any totally
healthy person can contain some five to 10 hidden mutations. So basically no
one is exempt from the possibility to bear an unhealthy child. This is a kind
of lottery hosted by the nature,” she concluded.
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