(Press-News.org) An international team, led by a University of Adelaide genetics expert, has made a breakthrough discovery which is expected to help thousands of young girls worldwide who are suffering from a rare yet debilitating form of epilepsy.
Professor Jozef Gecz, from the University of Adelaide's Robinson Research Institute, was a key player in identifying the responsible gene and mutations in this female-only epileptic syndrome, in 2008.
In breakthrough research published in Oxford Journals, Human Molecular Genetics, Professor Gecz has now found a treatment for this disorder.
A United States pharmaceutical company Marinus Pharmaceuticals (NASDAQ: MRNS) is now recruiting affected girls as part of the world's first clinical trial to test the therapy.
Professor Gecz says this condition is unique as it presents almost exclusively in girls while boys with mutations in the gene are not affected.
"We discovered that this condition is caused by an inherited mutation of the protocadherin 19 (PCDH19) gene, located on the X-chromosome," says Professor Gecz, Head of Neurogenetics at the University of Adelaide. "And interestingly, both males and females can be born with this mutation but only females suffer from the symptoms of the condition.
"The girls are affected because they have two X-chromosomes, one healthy and one with the PCDH19 mutation, which would usually protect them from a X-chromosome borne disease, but in this case it drives the disorder," he says.
Professor Gecz has worked with the families of girls with this female-only epilepsy from all over the world and says while the condition affects everyone differently, in most cases it is highly incapacitating.
"This form of epilepsy affects 15,000-30,000 girls in the US and approximately 1000 in Australia," says Professor Gecz.
"Girls born with this gene mutation appear perfectly normal in the first few months of their lives but when they reach about eight months of age, they start suffering from debilitating and frequent seizures. The girls also commonly suffer from intellectual disability and autism - it's a truly terrible disease which impacts the whole family.
"Through our current research we found that sufferers are deficient in a hormone called allopregnanolone.
"We know that hormones play a critical role in this condition because the seizures often stop once the girls reach puberty - however the autism and intellectual disability remain. We expect that the longer we can delay the onset of seizures, the less the sufferer might be affected by the autism and intellectual disability.
"These finding are so promising that Marinus Pharmaceuticals has commenced a clinical trial to test the effect of a synthetic form of the neurosteroid allopregnanolone, called ganaxolone," he says.
INFORMATION:
This research was supported by the National Health and Medical Research Council and a group of dedicated parents of girls with PCDH19 female epilepsy, Insieme per la Ricerca PCDH19 - ONLUS.
(PHILADELPHIA) -- Transfer RNAs (tRNAs) are ancient molecules and indispensable components of all living cells - they are found in all three kingdoms of life i.e., in archaea, bacteria and eukaryotes. In a cell, they are part of the machinery that translates messenger RNA (mRNA) sequences into amino acid sequences.
In recent years advances in sequencing technology have enabled detailed investigations of the RNA molecules that are active in a cell. A study published July 6th in the journal Oncotarget reports on a newly discovered category of tRNA fragments as well as ...
Andrew Hicks from the Museum of Natural History at the University of Colorado and his team discovered a previously unknown leafhopper species in the New Jersey Pine Barrens, located just east of the megalopolis that extends from New York City to Washington, DC. This was the first time an insect has been reported from the state-listed threatened pinebarren smokegrass, Muhlenbergia torreyana. The study can be found in the open-access journal ZooKeys.
The discovery was made with the help of Dr. Gerry Moore of the Natural Resources Conservation Service in Greensboro, NC, ...
Young children, who possess a good understanding of their own emotions and of those of their fellow human beings early on, suffer fewer attention problems than their peers with a lower emotional understanding. Evidence of this phenomenon was found through a study of Leuphana University of Lueneburg and George Mason University, USA, under the auspices of Prof. Dr. Maria von Salisch, Professor of Developmental Psychology at Leuphana University of Lueneburg. The study was recently published in the journal Kindheit & Entwicklung (Childhood & Development).
The findings stem ...
Results of EORTC trial 62072 appearing in Cancer show that in patients with soft tissue sarcoma, whose disease had progressed during or after prior chemotherapy, pazopanib improved progression-free survival but did not change health-related quality of life. This observed improvement in progression-free survival without impairment of health-related quality of life was considered a meaningful result.
There has not been a lot of research that has looked into the quality of life of patients with advanced soft tissue sarcoma. The results of this EORTC health related quality ...
The risk of experiencing another stroke is higher if patients, after dilation of their blood vessels in the brain, receive not only clot-inhibiting drugs, but also have stents inserted. The recently published results of the VISSIT study confirm this conclusion of a rapid report by the German Institute for Quality and Efficiency in Health Care (IQWiG) of October 2014. Thus, the available studies still provide no evidence of a benefit of treatment with intracranial stents (also called "percutaneous transluminal angioplasty and stenting", PTAS). This is the conclusion of a ...
Biodegradable drinking cups or vegetable wrapping foil: the bioplastic known as polylactic acid (PLA) is already a part of our everyday lives. And yet, PLA is not yet considered a full alternative to traditional petroleum-based plastics, as it is costly to produce. Researchers from the KU Leuven Centre for Surface Chemistry and Catalysis now present a way to make the PLA production process more simple and waste-free. Their findings were published in Science.
The bioplastic PLA is derived from renewable resources, including the sugar in maize and sugarcane. Fermentation ...
A protein dubbed 'Bcl-Rambo' can protect against heart failure, suggests new research from King's College London and funded by the British Heart Foundation (BHF).
The Bcl-Rambo protein (also known as Bcl2-L-13) was named by a Japanese scientist because it was thought to be involved in activating cell death - 'Rambo' also means violence in Japanese. However, it seems that the Rambo movie character's protein counterpart has actually been misjudged. New research shows for the first time that the Bcl-Rambo protein may not be so violent after all and is actually involved in ...
Iron-nickel alloys are ubiquitous: they are found at the earth's core and in meteorites. What is fascinating about such alloys is that their inner structure can change with rapid temperature swings. Heated up above 730 °C (1,340 °F), these alloys enter what is referred to as an austenitic phase. Alternatively, they can be turned into very hard alloys, referred to as a martensitic phase, by subjecting them to extremely rapid cooling. Now a team of scientists from Germany has, for the first time, created a large-scale simulation involving 275,000 atoms representing ...
Researchers at the University of Adelaide have discovered a new method for culturing stem cells which sees the highly therapeutic cells grow faster and stronger.
The research, which was published in the prestigious international journal, Stem Cells, is expected to eventually lead to new treatments for transplant patients.
Kisha Sivanathan, a PhD student in the University of Adelaide's School of Medicine and the Renal Transplant Unit at the Royal Adelaide Hospital, says this is an exciting breakthrough in stem cell research.
"Adult mesenchymal stem cells, which ...
A study of 311 patients by The University of Manchester has found that it may be possible to predict early which rheumatoid arthritis (RA) patients will fail to respond to the biologic drugs given to treat them. These findings could help better manage patients' symptoms.
RA is a chronic disease which affects up to 1.5% of the population. It is a significant health burden for patients, who can experience pain, reduced mobility and premature death unless they receive effective treatment.
Biologics are a relatively new form of treatment for RA. Given by injection, ...
