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Genetics

Detecting mosaic variation in parents improves genetic counseling

Mosaic variations in the cells of a parent may explain why childhood epilepsy strikes twice in some families   Advances in genetic testing offer new insights to parents who have a child with a rare but serious form of epilepsy, epileptic encephalopathy (EE), found in one of about every 2,000 births and characterized by developmental disabilities as well as horrible seizures. Previously, it was thought that EE occurred at random, but it is now known that EE is often caused by a new genetic mutation in the child. These mutations are rarely present in the parents, so they are counseled that it is unlikely that they will have a second child with EE.   New ways of sequencing the human genome mean geneticists and genetic counselors have much more to say to parents who wonder if future ...

Researchers move closer to solving puzzle of 15q13.3 microdeletion syndrome

Researchers are closer to solving the puzzle of a complex neurological condition called 15q13.3 microdeletion syndrome. Individuals with this condition are missing a small piece of chromosome 15 that usually contains six genes, but which one of the genes is responsible for the clinical characteristics of patients has not been clear. In this study, a multidisciplinary team of researchers at Baylor College of Medicine and Texas Children’s Hospital has identified in a mouse model OTUD7A as the gene within the deleted region that accounts for many characteristics of the human condition. The researchers also discovered that mice deficient in the gene Otud7a have fewer dendritic spines, small protrusions involved in neuron communication, which might be related to the neurological deficits. The r...

Researchers propose new explanation for symptoms of fragile X syndrome

  Until recently, scientists thought they understood one of the underlying causes of fragile X syndrome, the most common inherited cause of intellectual disability in the United States. The syndrome, which is associated with autism, was believed to be linked primarily to overactivity in a molecular pathway in the brain. But then, in 2014, two large-scale, multinational clinical trials aimed at treating fragile X by inhibiting that pathway failed.

GENE RESEARCH: Temporal Lobe Genetic Link Discovered

Via Epilepsy Research UK A New Genetic Link To Temporal Lobe Epilepsy There may be an association between natural differences (known as polymorphisms) in a gene called ADAM10 and temporal lobe epilepsy, according to new research led by Dr Keshen Li from Jinan University in China. The study, published in the scientific journal Frontiers in Neurology, is the first that shows such an association and suggests that by analyzing these natural differences early on, it could be possible to predict someone’s risk of temporal lobe epilepsy.

OCD RESEARCH: Genetic Cause Of OCD May Be Discovered

A single chemical receptor in the brain is responsible for a range of symptoms in mice that are reminiscent of obsessive-compulsive disorder (OCD), according to a Duke University study that appears online in the journal Biological Psychiatry. The findings provide a new mechanistic understanding of OCD and other psychiatric disorders and suggest that they are highly amenable to treatment using a class of drugs that has already been investigated in clinical trials. “These new findings are enormously hopeful for considering how to approach neurodevelopmental diseases and behavioral and thought disorders,” said the study’s senior investigator Nicole Calakos, M.D., Ph.D., an associate professor of neurology and neurobiology at the Duke University Medical Center.

Genetics plays significant role in sleep/wake timing of seizures

New research from the Epilepsy Phenome/Genome Project shows that genetics plays a role in sleep/wake timing of seizures. Researchers studied 1,395 individuals with epilepsy in families containing multiple people with epilepsy to determine whether sleep/wake timing of seizures runs in families.

3D maps of spatial organization may help find genes involved in hereditary diseases

It has now been 15 years since scientists celebrated the completion of the human genome. At that point, scientists had determined the entire sequence of the genetic letters making up our DNA. It is now known that this was only an initial step in a long journey: in addition to the chemical letters, information is also encoded in the manner in which the DNA is packed inside the cell nucleus. A research team led by Ana Pombo from the Max Delbrück Center in Berlin-Buch, in collaboration with international colleagues from Italy, Canada and Great Britain, has now generated comprehensive 3D maps of the spatial organization of the mouse genome, from embryonic stem cells to fully developed neurons. The work has been published in the journal Molecular Systems Biology. In the future such maps might h...

Genes May Play Greater Role in Focal Epilepsy than Previously Thought

Although focal epilepsies generally have not been considered to be genetic disorders, an international team led by researchers from the University of South Australia in Adelaide has uncovered evidence that a genetic component indeed exists. After identifying an association between DEPDC5gene mutations and familial focal epilepsy,1 the researchers turned their sights to the DEPDC5’sGATOR1 protein complex partners, a master regulator of cell growth and metabolism and the mechanistic target of rapamycin (mTOR) regulators NPRL2 and NPRL3, and found associations between mutations in them and focal epilepsy.2

UNC researchers show how a genetic mutation disables molecular switch and causes autism

Last December, researchers identified more than 1,000 gene mutations in individuals with autism, but how these mutations increased risk for autism was unclear. Now, UNC School of Medicine researchers are the first to show how one of these mutations disables a molecular switch in one of these genes and causes autism. Published today in the journal Cell, the research shows that an enzyme called UBE3A can be switched off when a phosphate molecule is tacked onto UBE3A. In neurons and during normal brain development, this switch can be turned off and on, leading to tight regulation of UBE3A. But a research team led by Mark Zylka, PhD, associate professor of cell biology and physiology, found that an autism-linked mutation destroys this regulatory switch. Destruction of the switch creates an enz...

Study finds girls with mild autism susceptible to treatment-resistant epilepsy

New York — In a study published in the June issue of Autism Research, researchers at the New York University observed that girls with mild autism are susceptible to what scientists call ‘treatment-resistant’ epilepsy. It has long been observed by researchers that girls appear less likely to develop autism than boys, and that a significant number of individuals with autism also suffer from epilepsy. But the latest research on the subject matter concluded that although girls are less likely to develop autism, it is found that when they do, they are more likely to suffer from epilepsy— and that they tend to develop a treatment-resistant variant of the neurological disorder. The scientists also observed that girls with autism who suffer from the neurological disorder mostly have milder forms o...

Over 400 New Neurological Drugs in Development

America’s biopharmaceutical research companies are currently developing 420 medicines for patients suffering from neurological disorders, including epilepsy, Alzheimer’s disease, multiple sclerosis (MS) and Parkinson’s disease. As highlighted in a new report from the Pharmaceutical Research and Manufacturers of America (PhRMA) and the Epilepsy Foundation, scientists around the globe are collaborating to find new or more effective treatments for patients with these complex disorders that attack the nervous system. “Researchers have made tremendous advances in understanding how the nervous system works at the molecular and genetic levels which in turn has translated into the development of more effective treatments for neurological disorders,” said John J. Caste...

Brain study reveals insights into genetic basis of autism

UNSW Australia scientists have discovered a link between autism and genetic changes in some segments of DNA that are responsible for switching on genes in the brain. The finding is the result of a world-first study of the human brain that identified more than 100 of these DNA segments, known as enhancers, which are thought to play a vital role in normal development by controlling gene activity in the brain. “Our study provides a unique resource of information on gene function in the human brain which could help reveal the basis of autism and related neurological disorders,” says lead author UNSW’s Dr Irina Voineagu. The research is published in the journal Nature Neuroscience. A lot of research on the genetic causes of diseases, including autism, focuses on mutations in g...

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