Gene causing cerebral aneurysm discovered
Researchers at Yale University, U.S., found that certain gene variants like SOX17 increased a person’s risk of falling prey to the disease, often characterized by ballooning of the blood vessels in the brain.
In rare cases, the brain aneurysm ruptures, releasing blood into the skull and causing a stroke, according to WebMD.
Senior study author, Murat Gunel, professor of neurosurgery, genetics and neurobiology, Yale said, “These findings provide important new insights into the causes of intracranial aneurysms and are a critical step forward in the development of a diagnostic test that can identify people at high risk prior to the emergence of symptoms.”
Details of the study
The research team at Yale analyzed data of 2,00,000 volunteers provided by 69 researchers from 32 institutions in 10 countries including Finland, the Netherlands and Japan.
For the study, the researchers evaluated some 5,891 aneurysm patients and another 14,181 subjects without the disease.
The team studied the entire genome of the subjects and observed any changes in the genetic code more often found in aneurysm patients unlike the unaffected group.
Results of the study
Analysis revealed that any person may have up to two copies of these genetic variants called risk alleles.
It was further noted that people carrying five or six risk alleles were thrice as likely to develop brain aneurysm as the ones with one or no risk alleles at all.
Further, it was noted that people who had all the risk variants were at a five to seven-fold risk of developing the condition in contrast to people with no risk variants.
“Given the often-devastating consequences of the bleeding in the brain, early detection can be the difference between life and death,” stated Gunel.
Further research required
The researchers stressed that study at such a large scale was possible only due to radical improvement in genomics technology.
They also stated, “It is clear that the key to unlocking the biology of this disorder is the combination of massive numbers of patients and the availability of state of the art genomics infrastructure.”
Collaborator in the study, Richard P. Lifton, Sterling Professor and Chairman, Department of Genetics at Yale and investigator at Howard Hughes Medical Institute said, “While much remains to be done, this study provides fundamental new clues about the causes of this catastrophic disease that point to new opportunities for early diagnosis and therapeutic intervention.”
The study appears in the journal Nature Genetics.