Study pinpoints cell type, brain region affected by gene mutations in autism

Asbestos Industry-Backed FACT Act Passed by House GOP’s—But Not Likely…On MyBiologica.comHealth is the level of functional or metabolic efficiency of a living being. In humans, it is the general condition of a person’s mind and body, usually meaning to be free from illness, injury or pain.Alternative medicine is any of a wide range of health care practices, products and therapies, using methods of medical diagnosis and treatments which, at least up to the end of the twentieth century, were typically not included in the degree courses of established medical schools teaching medicine. Examples include homeopathy, Ayurveda, chiropractic and acupuncture.On MyBiologica.com all you are looking for about alternative medicine and health.Coming soon section with best cheapset health insurance offers for self …

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Study pinpoints cell type, brain region affected by gene mutations in autism

Researchers have identified the disruption of a single type of cell — in a particular brain region and at a particular time in brain development — as a significant factor in the emergence of autism.

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Nov. 21, 2013 — A team led by UC San Francisco (UCSF) scientists has identified the disruption of a single type of cell — in a particular brain region and at a particular time in brain development — as a significant factor in the emergence of autism.The finding, reported in the Nov. 21 issue of Cell, was made with techniques developed only within the last few years and marks a turning point in autism spectrum disorders (ASDs) research.Large-scale gene-sequencing projects are revealing hundreds of autism-associated genes. Scientists have begun to leverage new methods to decipher how mutations in these disparate genes might converge to exert their effects in the developing brain.The new research focused on just nine genes, those most strongly associated with autism in recent sequencing studies, and investigated their effects using precise maps of gene expression during human brain development.Led by Jeremy Willsey, a graduate student in the laboratory of senior author Matthew W. State, MD, PhD, of UCSF, the group showed that this set of genes contributes to abnormalities in brain cells known as cortical projection neurons in the deepest layers of the developing prefrontal cortex, during the middle period of fetal development.Though a range of developmental scenarios in multiple brain regions is surely at work in ASDs, the researchers said the ability to place these specific genetic mutations in one specific set of cells — among hundreds of cell types in the brain, and at a specific point in human development — is a critical step in beginning to understand how autism comes about.”Given the small subset of autism genes we studied, I had no expectation that we would see the degree of spatiotemporal convergence that we saw,” said State, an international authority on the genetics of neurodevelopmental disorders.”This strongly suggests that, though there are hundreds of autism risk genes, the number of underlying biological mechanisms will be far fewer,” he said. “This is a very important clue to advance precision medicine for autism toward the development of personalized and targeted therapies.”Complex Genetic Architecture of ASDsASDs, which are marked by deficits in social interaction and language development, as well as by repetitive behaviors and/or restricted interests, are known to have a strong genetic component.But these disorders are exceedingly complex, with considerable variation in symptoms and severity, and little consistency in the mutations among affected individuals.Instead, with the rise of new sequencing methods over the past several years, researchers have identified many rare, non-inherited, spontaneous mutations that appear to act in combination with other genetic and non-genetic factors to cause ASDs. According to some estimates, mutations in as many as 1,000 genes could play a role in the development of these disorders.While researchers have been heartened that specific genes are now rapidly being tied to ASDs, State said the complex genetic architecture of ASDs is also proving to be challenging.”If there are 1,000 genes in the population that can contribute to risk in varying degrees and each has multiple developmental functions, it is not immediately obvious how to move forward to determine what is specifically related to autism,” State said. “Without this, it is very difficult to think about how to develop new and better medications,” he said.Focusing on Nine GenesTo begin to grapple with those questions, the researchers involved in the new study first selected as “seeds” the nine genes that have been most strongly tied to ASDs in recent sequencing research from their labs and others.Importantly, these nine genes were chosen solely because of the statistical evidence for a relationship to ASDs, not because their function was known to fit a theory of the cause of ASDs. “We asked where the leads take us, without any preconceived idea about where they should take us,” said State.The team then took advantage of BrainSpan, a digital atlas assembled by a large research consortium, including co-author Nenad Šestan, MD, PhD, and colleagues at Yale School of Medicine. Based on donated brain specimens, BrainSpan documents how and where genes are expressed in the human brain over the lifespan.The scientists, who also included Bernie Devlin, PhD, of The University of Pittsburgh School of Medicine; Kathryn Roeder, PhD, of Carnegie-Mellon University; and James Noonan, PhD, of Yale School of Medicine, used this tool to investigate when and where the nine seed genes join up with other genes in “co-expression networks” to wire up the brain or maintain its function.The resulting co-expression networks were then tested using a variety of pre-determined criteria to see whether they showed additional evidence of being related to ASDs. …

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Two human proteins found to affect how ‘jumping gene’ gets around

Asbestos Industry-Backed FACT Act Passed by House GOP’s—But Not Likely…On MyBiologica.comHealth is the level of functional or metabolic efficiency of a living being. In humans, it is the general condition of a person’s mind and body, usually meaning to be free from illness, injury or pain.Alternative medicine is any of a wide range of health care practices, products and therapies, using methods of medical diagnosis and treatments which, at least up to the end of the twentieth century, were typically not included in the degree courses of established medical schools teaching medicine. Examples include homeopathy, Ayurveda, chiropractic and acupuncture.On MyBiologica.com all you are looking for about alternative medicine and health.Coming soon section with best cheapset health insurance offers for self …

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Two human proteins found to affect how ‘jumping gene’ gets around

Using a new method to catch elusive “jumping genes” in the act, researchers have found two human proteins that are used by one type of DNA to replicate itself and move from place to place. The discovery breaks new ground in understanding the arms race between a jumping gene driven to colonize new areas of the human genome and cells working to limit the risk posed by such volatile bits of DNA.

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Nov. 21, 2013 — Using a new method to catch elusive “jumping genes” in the act, researchers have found two human proteins that are used by one type of DNA to replicate itself and move from place to place. The discovery, described in the Nov. 21 issue of Cell, breaks new ground, they say, in understanding the arms race between a jumping gene driven to colonize new areas of the human genome and cells working to limit the risk posed by such volatile bits of DNA.Jumping genes, more formally known as transposons or transposable elements, are DNA segments with the blueprints for proteins that help to either copy the segment or remove it, then insert it into a new place in the genome. Human genomes are littered with the remnants of ancient jumping genes, but because cells have an interest in limiting such trespasses, they have evolved ways to regulate them. Most jumping genes have mutated and can no longer move, but these “rusting hulks” are still passed down from generation to generation.One exception is a jumping gene called L1, which has been so successful that copies of it make up about 20 percent of human DNA. While many of these copies are now mutated and dormant, others are still active and thus the subject of much interest from geneticists.”Human cells have evolved ways of limiting jumping genes’ activity, since the more frequently they move, the more likely they are to disrupt an important gene and cause serious damage,” says Lixin Dai, Ph.D., a postdoctoral associate at the Johns Hopkins Institute for Basic Biomedical Sciences, who led the study. To find out more about how cells control L1 and what tricks the jumping gene uses to get around these defenses, Dai and others in the laboratory of Jef Boeke, Ph.D., first induced lab-grown human cells to make large amounts of the proteins for which L1 contains the blueprints. As expected, the two types of L1 protein joined with human proteins and genetic material called RNA to form so-called ribonucleoprotein particle complexes, which L1 uses to “jump.”To find out which human proteins interact with ribonucleoproteins — and are therefore likely to have a role in either tamping down its activity or helping it along — Boeke’s team collaborated with researchers at The Rockefeller University who had developed a technique for fast-freezing yeast with liquid nitrogen, then grinding it up for analysis with steel balls and very rapidly pulling out the ribonucleoproteins with tiny magnetic particles. “It’s a good way of preserving the interactions,” Dai says.Adapting this powerful technique to human cells, the team found 37 proteins that appear to interact with the ribonucleoprotein, and they selected two for further analysis. …

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9 Foods That Boost Metabolism Naturally

Asbestos Industry-Backed FACT Act Passed by House GOP’s—But Not Likely…On MyBiologica.comHealth is the level of functional or metabolic efficiency of a living being. In humans, it is the general condition of a person’s mind and body, usually meaning to be free from illness, injury or pain.Alternative medicine is any of a wide range of health care practices, products and therapies, using methods of medical diagnosis and treatments which, at least up to the end of the twentieth century, were typically not included in the degree courses of established medical schools teaching medicine. Examples include homeopathy, Ayurveda, chiropractic and acupuncture.On MyBiologica.com all you are looking for about alternative medicine and health.Coming soon section with best cheapset health insurance offers for self …

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9 Foods That Boost Metabolism Naturally

Turn up your body’s fat burn with these healthy foods

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9 Foods That Boost Metabolism Naturally

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Skeletal remains of 24,000-year-old boy raise new questions about first Americans

Asbestos Industry-Backed FACT Act Passed by House GOP’s—But Not Likely…On MyBiologica.comHealth is the level of functional or metabolic efficiency of a living being. In humans, it is the general condition of a person’s mind and body, usually meaning to be free from illness, injury or pain.Alternative medicine is any of a wide range of health care practices, products and therapies, using methods of medical diagnosis and treatments which, at least up to the end of the twentieth century, were typically not included in the degree courses of established medical schools teaching medicine. Examples include homeopathy, Ayurveda, chiropractic and acupuncture.On MyBiologica.com all you are looking for about alternative medicine and health.Coming soon section with best cheapset health insurance offers for self …

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Skeletal remains of 24,000-year-old boy raise new questions about first Americans

Results from a DNA study of a young boy’s skeletal remains believed to be 24,000 years old could turn the archaeological world upside down – it’s been proven that nearly 30 percent of modern Native American’s ancestry came from this youngster’s gene pool, suggesting First Americans came directly from Siberia.

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Nov. 20, 2013 — Results from a DNA study of a young boy’s skeletal remains believed to be 24,000 years old could turn the archaeological world upside down — it’s been demonstrated that nearly 30 percent of modern Native American’s ancestry came from this youngster’s gene pool, suggesting First Americans came directly from Siberia, according to a research team that includes a Texas A&M University professor.Kelly Graf, assistant professor in the Center for the Study of First Americans and Department of Anthropology at Texas A&M, is part of an international team spearheaded by Eske Willerslev and Maanasa Raghaven from the Centre for GeoGenetics at the University of Copenhagen, Denmark and additional researchers from Sweden, Russia, United Kingdom, University of Chicago and University of California-Berkeley. Their work, funded by the Danish National Science Foundation, Lundbeck Foundation, and the National Science Foundation, is published in the current issue of Nature magazine.Graf and Willerslev conceived the project and traveled to the Hermitage State Museum in St. Petersburg, Russia, where the remains are now housed to collect samples for ancient DNA. The skeleton was first discovered in the late 1920s near the village of Mal’ta in south-central Siberia, and since then it has been referred to as “the Mal’ta child” because until this DNA study the biological sex of the skeleton was unknown.”Now we can say with confidence that this individual was a male” says Graf.Graf helped extract DNA material from the boy’s upper arm and “the results surprised all of us quite a bit,” she explains.”It shows he had close genetic ties to today’s Native Americans and some western Eurasians, specifically some groups living in central Asia, South Asia, and Europe. Also, he shared close genetic ties with other Ice-Age western Eurasians living in European Russia, Czech Republic and even Germany. We think these Ice-Age people were quite mobile and capable of maintaining a far-reaching gene pool that extended from central Siberia all the way west to central Europe.”Another significant result of the study is that the Mal’ta boy’s people were also ancestors of Native Americans, explaining why some early Native American skeletons such as Kennewick Man were interpreted to have some European traits.”Our study proves that Native Americans ancestors migrated to the Americas from Siberia and not directly from Europe as some have recently suggested,” Graf explains.The DNA work performed on the boy is the oldest complete genome of a human sequenced so far, the study shows. Also found near the boy’s remains were flint tools, a beaded necklace and what appears to be pendant-like items, all apparently placed in the burial as grave goods.The discovery raises new questions about the timing of human entry in Alaska and ultimately North America, a topic hotly debated in First Americans studies.”Though our results cannot speak directly to this debate, they do indicate Native American ancestors could have been in Beringia — extreme northeastern Russia and Alaska — any time after 24,000 years ago and therefore could have colonized Alaska and the Americas much earlier than 14,500 years ago, the age suggested by the archaeological record.””What we need to do is continue searching for earlier sites and additional clues to piece together this very big puzzle.”

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