Genes behind enlarged brain size, cancer, autism and epilepsy identified
Washington: Researchers have discovered new gene mutations associated with markedly enlarged brain size, or megalencephaly.
Mutations in three genes, AKT3, PIK3R2 and PIK3CA, were also found to be associated with a constellation of disorders including cancer, hydrocephalus, epilepsy, autism, vascular anomalies and skin growth disorders.
The discovery offers several important lessons and hope for the future in medicine.
First, the research team led by Seattle Children`s Research Institute discovered additional proof that the genetic make-up of a person is not completely determined at the moment of conception. Researchers previously recognized that genetic changes may occur after conception, but this was believed to be quite rare.
Second, discovery of the genetic causes of these human diseases, including developmental disorders, may also lead directly to new possibilities for treatment.
AKT3, PIK3R2 and PIK3CA are present in all humans, but mutations in the genes are what lead to conditions including megalencephaly, cancer and other disorders. PIK3CA is a known cancer-related gene, and appears able to make cancer more aggressive.
Scientists at Boston Children`s Hospital recently published similar findings related to PIK3CA and a rare condition known as CLOVES syndrome in the American Journal of Human Genetics.
Researchers at Seattle Children`s Research Institute will now delve more deeply into the findings, with an aim to uncover even more about the potential medical implications for children.
“Based on what we`ve found, we believe that we can eventually reduce the burden of and need for surgery for kids with hydrocephalus and change the way we treat other conditions, including cancer, autism and epilepsy,” said Jean-Baptiste Riviere, PhD, at Seattle Children`s Research Institute.
“This research truly helps advance the concept of personalized medicine,” Riviere added.
Drs. Dobyns, Riviere and team made this discovery through exome sequencing, a strategy used to selectively sequence the coding regions of the genome as an inexpensive but effective alternative to whole genome sequencing.
An exome is the most functionally relevant part of a genome, and is most likely to contribute to the phenotype, or observed traits and characteristics, of an organism.
The study was published online June 24 in Nature Genetics.
More from India
More from World
More from Sports
More from Entertaiment
- DNA: APJ Abdul Kalam's last journey, India bids a tearful adieu
- DNA : Justice delivered; India hangs 1993 Mumbai blasts convict Yakub Memon
- 'People's President' APJ Abdul Kalam laid to rest in Rameswaram
- Shashi Tharoor condems Yakub Memon's hanging
- Robert Vadra explains Facebook post, denies insulting Parliament
- Yakub Memon: The two men who lead police to 'House of Memons'
- Why did you choose Smriti Irani as HRD minister? Congress leader asks PM Narendra Modi
- Meeting called by Speaker fails to end Parliament logjam; government indicates all-party meet
- Rajnath slams UPA for coining 'Hindu terrorists', Congress accuses BJP of playing politics on terror
- Cristiano Ronaldo great, but Lionel Messi is greatest: Xavi Hernandez