Scientists at the UCLA Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research and Center for Duchenne Muscular Dystrophy at UCLA have developed a new approach that could eventually be used to treat Duchenne muscular dystrophy. The stem cell gene therapy could be applicable for 60 percent of people with Duchenne, which affects approximately 1 in 5,000 boys in the U.S. and is the most common fatal childhood genetic disease.
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Young, C., Hicks, M., Ermolova, N., Nakano, H., Jan, M., Younesi, S., Karumbayaram, S., Kumagai-Cresse, C., Wang, D., Zack, J.... (2016) A Single CRISPR-Cas9 Deletion Strategy that Targets the Majority of DMD Patients Restores Dystrophin Function in hiPSC-Derived Muscle Cells. Cell Stem Cell. DOI: 10.1016/j.stem.2016.01.021
I'll admit to being pretty fascinated by the Branched Chain α-Keto acid Dehydrogenase Kinase (BCKDK) gene. As per previous blog entries about this gene (see here and see here) and the important biological step it plays in the metabolism of the branched-chain amino acids (BCAAs), at least one 'form' of autism might be particularly sensitive to issues with it . I take it you've heard of the idea that the autisms (plural) might be a better description of autism? If you haven't, here is a p........ Read more »
Oyarzabal A, Bravo-Alonso I, Sánchez-Aragó M, Rejas MT, Merinero B, García-Cazorla A, Artuch R, Ugarte M, & Rodríguez-Pombo P. (2016) Mitochondrial response to the BCKDK-deficiency: Some clues to understand the positive dietary response in this form of autism. Biochimica et biophysica acta. PMID: 26809120
Compared with Whites, Black Americans have high levels of an important stress hormone called cortisol circulating in their bloodstream. No-one really knows why this is, but the differences remain even after you take into account social and psychological factors. It seems likely that simply being black exposes you to a cumulative effect of increased lifetime [Read More...]... Read more »
Assari, S., Moghani Lankarani, M., Malekahmadi, M., Caldwell, C., & Zimmerman, M. (2015) Baseline Religion Involvement Predicts Subsequent Salivary Cortisol Levels Among Male But not Female Black Youth. International Journal of Endocrinology and Metabolism, 13(4). DOI: 10.5812/ijem.31790
Biosensors are powerful tools in synthetic biology for engineering metabolic pathways or controlling synthetic and native genetic circuits in bacteria. Scientists have had difficulty developing a method to engineer "designer" biosensor proteins that can precisely sense and report the presence of specific molecules, which has so far limited the number and variety of biosensor designs able to precisely regulate cell metabolism, cell biology, and synthetic gene circuits.
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Taylor, N., Garruss, A., Moretti, R., Chan, S., Arbing, M., Cascio, D., Rogers, J., Isaacs, F., Kosuri, S., Baker, D.... (2015) Engineering an allosteric transcription factor to respond to new ligands. Nature Methods, 13(2), 177-183. DOI: 10.1038/nmeth.3696
For Valentine's Day: the fascinating experiments that led to the invention of the defibrillator and CPR - truly a tale from the “heart”!... Read more »
Furman S. (2002) Early history of cardiac pacing and defibrillation. Indian pacing and electrophysiology journal, 2(1), 2-3. PMID: 17006571
Bresadola, M. (1998) Medicine and science in the life of Luigi Galvani (1737–1798). Brain Research Bulletin, 46(5), 367-380. DOI: 10.1016/S0361-9230(98)00023-9
"CFS [chronic fatigue syndrome] affected 1.9% of 16-year-olds in a UK birth cohort and was positively associated with higher family adversity. Gender was a risk factor at age 16 years but not at age 13 years or in 16-year-olds without high levels of depressive symptoms."So said the findings reported by Simon Collin and colleagues  which also gained some media interest as per an entry on the BBC news website for example (see here). Based on data generated by the Children of the ........ Read more »
The age at which an adolescent begins using marijuana may affect typical brain development, according to researchers at the Center for BrainHealth at The University of Texas at Dallas. In a paper recently published, scientists describe how marijuana use, and the age at which use is initiated, may adversely alter brain structures that underlie higher order thinking.
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Filbey, F., McQueeny, T., DeWitt, S., & Mishra, V. (2015) Preliminary findings demonstrating latent effects of early adolescent marijuana use onset on cortical architecture. Developmental Cognitive Neuroscience, 16-22. DOI: 10.1016/j.dcn.2015.10.001
Two papers provide some blogging fodder today. The first is from Agnieszka Rynkiewicz and colleagues  (open-access available here) who introduces a concept that many people with an interest in autism might have considered: a 'female camouflage effect' in autism. The second paper is by C Ellie Wilson and colleagues  and continues the idea that sex/gender differences present in autism might have some important implications for diagnostic evaluation.Both these papers entertain ........ Read more »
Rynkiewicz, A., Schuller, B., Marchi, E., Piana, S., Camurri, A., Lassalle, A., & Baron-Cohen, S. (2016) An investigation of the ‘female camouflage effect’ in autism using a computerized ADOS-2 and a test of sex/gender differences. Molecular Autism, 7(1). DOI: 10.1186/s13229-016-0073-0
Wilson CE, Murphy CM, McAlonan G, Robertson DM, Spain D, Hayward H, Woodhouse E, Deeley PQ, Gillan N, Ohlsen JC.... (2016) Does sex influence the diagnostic evaluation of autism spectrum disorder in adults?. Autism : the international journal of research and practice. PMID: 26802113
Human and animal movements generate slight neural signals from their brain cells. These signals obtained using a neural interface are essential for realizing brain-machine interfaces (BMI). Such neural recording systems using wires to connect the implanted device to an external device can cause infections through the opening in the skull. One method of solving this issue is to develop a wireless neural interface that is fully implantable on the brain.
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Okabe, K., Jeewan, H., Yamagiwa, S., Kawano, T., Ishida, M., & Akita, I. (2015) Co-Design Method and Wafer-Level Packaging Technique of Thin-Film Flexible Antenna and Silicon CMOS Rectifier Chips for Wireless-Powered Neural Interface Systems. Sensors, 15(12), 31821-31832. DOI: 10.3390/s151229885
The latest Public Health statement is about the dangers of suntanning. But what IS a suntan? And how could it lead to cancer...?... Read more »
NICE. (2016) Sunlight exposure: risks and benefits. National Institute for Health . info:/
Newton-Bishop, J., Chang, Y., Elliott, F., Chan, M., Leake, S., Karpavicius, B., Haynes, S., Fitzgibbon, E., Kukalizch, K., Randerson-Moor, J.... (2011) Relationship between sun exposure and melanoma risk for tumours in different body sites in a large case-control study in a temperate climate. European Journal of Cancer, 47(5), 732-741. DOI: 10.1016/j.ejca.2010.10.008
I have to thank Dr Malav Trivedi for bringing my attention to some recent findings reported by Yiting Zhang and colleagues (including Malav)  (open-access) suggesting that: "levels of vitamin B12, especially its MeCbl [methylcobalamin] form, decrease with age in frontal cortex of control human subjects."Further, researchers reported: "abnormally lower total Cbl [cobalamin] and MeCbl levels in subjects with autism and schizophrenia, as compared to age-matched cont........ Read more »
Zhang Y, Hodgson NW, Trivedi MS, Abdolmaleky HM, Fournier M, Cuenod M, Do KQ, & Deth RC. (2016) Decreased Brain Levels of Vitamin B12 in Aging, Autism and Schizophrenia. PloS one, 11(1). PMID: 26799654
Researchers at the University of Minnesota have engineered a new synthetic biopathway that can more efficiently and cost-effectively turn agricultural waste, like corn stover and orange peels, into a variety of useful products ranging from spandex to chicken feed.
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Tai, Y., Xiong, M., Jambunathan, P., Wang, J., Wang, J., Stapleton, C., & Zhang, K. (2016) Engineering nonphosphorylative metabolism to generate lignocellulose-derived products. Nature Chemical Biology. DOI: 10.1038/nchembio.2020
Not so long ago, there was a hope in the research community that common genetic variation, i.e. variants present at minor allele frequencies >5% in human populations, might explain most or all of the heritability of common complex disease. That would have been convenient, because such variants can be genotyped with precise, inexpensive, high-density SNP […]... Read more »
Fritsche LG, Igl W, Bailey JN, Grassmann F, Sengupta S, Bragg-Gresham JL, Burdon KP, Hebbring SJ, Wen C, Gorski M.... (2016) A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. Nature genetics, 48(2), 134-43. PMID: 26691988
The title of this quite brief post refers to an important finding detailed by Derek Nord and colleagues  who, when analysing data from the "2008–09 National Core Indicators Adult Consumer Survey", concluded that there were some important inequalities when it came to employment rates for those diagnosed on the autism spectrum.Employment rates and work opportunities for people diagnosed with an autism spectrum disorder (ASD) is a hot topic at the moment. The Nord findings build upon report af........ Read more »
Nord, D., Stancliffe, R., Nye-Lengerman, K., & Hewitt, A. (2016) Employment in the community for people with and without autism: A comparative analysis. Research in Autism Spectrum Disorders, 11-16. DOI: 10.1016/j.rasd.2015.12.013
There may be a genetic connection between some mental health disorders and type 2 diabetes. In a new report, scientists show that a gene called “DISC1,” which is believed to play a role in mental health disorders, such as schizophrenia, bipolar disorder and some forms of depression, influences the function of pancreatic beta cells which produce insulin to maintain normal blood glucose levels.
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Jurczyk A, Nowosielska A, Przewozniak N, Aryee KE, DiIorio P, Blodgett D, Yang C, Campbell-Thompson M, Atkinson M, Shultz L.... (2016) Beyond the brain: disrupted in schizophrenia 1 regulates pancreatic β-cell function via glycogen synthase kinase-3β. FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 30(2), 983-93. PMID: 26546129
Plasticity of the brain, what does that even mean? Well the good news is that it isn’t just a marketing ploy, the brain needs to be “plastic” because we need to be able to adapt. Frankly speaking, the brain still has a lot to learn about itself. Scientists at the Virginia Tech Carilion Research Institute have made a key finding of the striking differences in how the brain’s cells can change through experience.
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Saez, I., & Friedlander, M. (2016) Role of GABAA-Mediated Inhibition and Functional Assortment of Synapses onto Individual Layer 4 Neurons in Regulating Plasticity Expression in Visual Cortex. PLOS ONE, 11(2). DOI: 10.1371/journal.pone.0147642
"The primary finding from the study was evidence of an improvement in several objective sleep parameters in participants in whom the increased colonization of lactic acid producing organisms was resolved after antibiotic treatment."Those were the words written by Melinda Jackson and colleagues  (open-access) who, during an open-label trial, looked at whether administration of an antibiotic (erythromycin 400 mg) over the course of 6 days might have some important effects on elements of sleep i........ Read more »
Jackson ML, Butt H, Ball M, Lewis DP, & Bruck D. (2015) Sleep quality and the treatment of intestinal microbiota imbalance in Chronic Fatigue Syndrome: A pilot study. Sleep Science (Sao Paulo, Brazil), 8(3), 124-33. PMID: 26779319
Underwater sound linked to human activity could alter the behaviour of seabed creatures that play a vital role in marine ecosystems, according to new research from the University of Southampton. The study found that exposure to sounds that resemble shipping traffic and offshore construction activities results in behavioural responses in certain invertebrate species that live in the marine sediment.
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Solan, M., Hauton, C., Godbold, J., Wood, C., Leighton, T., & White, P. (2016) Anthropogenic sources of underwater sound can modify how sediment-dwelling invertebrates mediate ecosystem properties. Scientific Reports, 20540. DOI: 10.1038/srep20540
"Vitamin D deficiency might contribute to the aetiology of ASD [autism spectrum disorder]. Supplementation of vitamin D3, which is a safe and cost-effective form of treatment, may significantly improve the outcome of some children with ASD, especially younger children."More big words have appeared from a research group who seem to be particularly interested in how vitamin D (the sunshine vitamin/hormone) might have some important links to at least some cases of autism. The findings thi........ Read more »
Feng J, Shan L, Du L, Wang B, Li H, Wang W, Wang T, Dong H, Yue X, Xu Z.... (2016) Clinical improvement following vitamin D3 supplementation in Autism Spectrum Disorder. Nutritional neuroscience. PMID: 26783092
Genes could help in determining whether a person likes to rise early in the morning or not.
Researchers, in affiliation with 23andMe, Inc. recently worked on the DNA of 89,283 individuals, and found that genes could show some specific variations more frequently in the people, who self-identify themselves as early risers or morning people. They found 15 different spots in the genetic makeup that can vary between morning........ Read more »
Hu, Y., Shmygelska, A., Tran, D., Eriksson, N., Tung, J., & Hinds, D. (2016) GWAS of 89,283 individuals identifies genetic variants associated with self-reporting of being a morning person. Nature Communications, 10448. DOI: 10.1038/ncomms10448
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