According to information from a paper that was published in the June 24, 2012 online issue of Nature Genetics, de novo somatic mutations in a genetic trio can keep cell size and proliferations regulated, and might just be the reason for hemimegalensephaly (which is most often diagnosed in kids that have epilepsy).
The team of doctors and researchers who conducted this study were led by scientists at the University of California, San Diego School of Medicine and the Howard Hughes Medical Institute. These de novo somatic mutations are caused by genetic changes in non-sex cells to which neither parent possesses. The scientists’ research is suggesting that it might be possible to make drugs that stop or turn down the signals from these mutated genes. This may be what helps to reduce or even prevent patients from needing surgery. For this study, Gleeson monitored 20 participating patients that had hemimegalencephaly that Gary W. Mathern, MD, a neurosurgeon at UC Los Angeles’ Mattel Children’s Hospital, operated on. He then analyzed and compared the patients’ DNA sequences by way of brain tissue that had been removed from their saliva and blood.
“Mathern had reported a family with identical twins, in which one had hemimegalencephaly and one did not. Since such twins share all inherited DNA, we got to thinking that there may be a new mutation that arose in the diseased brain that causes the condition,” said Joseph Gleeson, MD.
In the end, the researchers were able to identify three gene mutations in the diseased brain samples. Each of the mutations have been linked to cancer.
“We found mutations in a high percentage of the cells in genes regulating the cellular growth pathways in hemimegalencephaly,” said Gleeson. “These same mutations have been found in various solid malignancies, including breast and pancreatic cancer. For reasons we do not yet understand, our patients do not develop cancer, but rather this unusual brain condition. Either there are other mutations required for cancer propagation that are missing in these patients, or neurons are not capable of forming these types of cancers.”
This research may go a long way toward helping epileptic children with hemimegalencephaly find the right medication to treat their conditions. Right now, epilepsy is a condition that is treated with anti-seizure medications like Topamax. Some of the side effects linked to Topamax include birth defects in babies exposed to the drug in-utero. Some of those birth defects linked to Topamax include PPHN, oral clefts, neural tube defects and heart, lung and brain defects.
If your baby was born with any of these birth defects after being exposed to Topamax during gestation, contact Greg Jones today for a free consultation. I am experienced at fighting Topamax lawsuits and may be able to help you recover money for your baby’s injuries.
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