There’s something missing from all the coverage of Zika virus, the mosquito-spread flavivirus that’s spread across 26 countries in the Americas since May 2015. While Zika usually doesn’t cause symptoms in adults, the outbreak coincided with a 20- to 40-fold … Continue reading →... Read more »
Tetro JA. (2016) Zika and microcephaly: causation, correlation, or coincidence?. Microbes and infection / Institut Pasteur. PMID: 26774330
I won't keep you too long today as I bring the paper by Adam Young and colleagues  (open-access available here) to your attention and some discussions around the concept of inflammation and autism. To quote: "An emerging focus of research into the aetiology of ASC [autism spectrum condition] has suggested neuroinflammation as one candidate underlying [the] biological model."Including one Simon Baron-Cohen on the authorship list, I have to say that I was impressed to see this quite c........ Read more »
Young AM, Chakrabarti B, Roberts D, Lai MC, Suckling J, & Baron-Cohen S. (2016) From molecules to neural morphology: understanding neuroinflammation in autism spectrum condition. Molecular autism, 9. PMID: 26793298
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
Let's talk about hearts and how they get broken. Literally, with drugs. When we swallow a pill, it's often to help address a problem we're experiencing with a particular body part. An aching head or a sore throat, for example. The pill breaks down in our guts and we absorb the drug into our bloodstream. It travels around our body and eventually ends up at the hurting locale where it works to fix the problem. Unfortunately, sometimes the drug will end up somewhere else and act there to cause an u........ Read more »
Wu A. (2008) Cardiotoxic drugs: Clinical monitoring and decision making. Heart, 94(11), 1503-1509. DOI: 10.1136/hrt.2007.133876
Renal cell carcinomas (RCCs) can be life-threatening and although mostly sporadic, approximately 5% are associated with genetic conditions such as BHD. Early identification of families carrying cancer-predisposing mutations enables access to regular screening and earlier treatment. However, it can be difficult to distinguish between sporadic and inherited RCC based on standard immunohistological analysis. New research from Kato et al. (2016) assessed whether variability in the chromosomal status........ Read more »
Kato, I., Iribe, Y., Nagashima, Y., Kuroda, N., Tanaka, R., Nakatani, Y., Hasumi, H., Yao, M., & Furuya, M. (2016) Fluorescent and Chromogenic in situ Hybridization of CEN17q as a Potent Useful Diagnostic Marker for Birt-Hogg-Dubé Syndrome-associated Chromophobe Renal Cell Carcinomas. Human Pathology. DOI: 10.1016/j.humpath.2016.01.004
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
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
A new agent of the tick-borne illness known as Lyme disease has emerged in the upper Midwest. The bacterium is genetically related to Borrelia burgdorferi, until now believed to be the only cause of Lyme disease in the United States. The name proposed for the bacterium is Borrelia mayonii because the work was conducted at the Mayo Clinic. B. mayonii has not been detected in patients outside of the Midwest (so far). The findings are described in The Lancet Infectious Disea........ Read more »
Pritt BS, Mead PS, Johnson DK, Neitzel DF, Respicio-Kingry LB, Davis JP, Schiffman E, Sloan LM, Schriefer ME, Replogle AJ.... (2016) Identification of a novel pathogenic Borrelia species causing Lyme borreliosis with unusually high spirochaetaemia: a descriptive study. The Lancet. Infectious diseases. PMID: 26856777
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
Accessing TCGA cancer data has been approached in a variety of ways. This week’s tip of the week highlights a web-based portal for improved access to the data in different ways. The Stanford Cancer Genome Atlas Clinical Explorer is aimed at helping identify clinically relevant genes in the cancer data sets. They note that the data […]... Read more »
Lee, H., Palm, J., Grimes, S., & Ji, H. (2015) The Cancer Genome Atlas Clinical Explorer: a web and mobile interface for identifying clinical–genomic driver associations. Genome Medicine, 7(1). DOI: 10.1186/s13073-015-0226-3
A recreational runner with motion control running shoes was less likely to sustain an injury than a runner wearing standard running shoes. Runners with pronated feet may benefit the most from a motion control running shoe.... Read more »
Malisoux, L., Chambon, N., Delattre, N., Gueguen, N., Urhausen, A., & Theisen, D. (2016) Injury risk in runners using standard or motion control shoes: a randomised controlled trial with participant and assessor blinding. British Journal of Sports Medicine. DOI: 10.1136/bjsports-2015-095031
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
Newly developed paperclip sized, mind control device can be placed in the brain, and can be used to help the people with paralysis to walk again.
Researchers from the University of Melbourne have developed a “REVOLUTIONARY” device, a “bionic spinal cord” that can be implanted in a blood vessel in the brain and can help patients of spinal cord injuries to move and walk without any outside assista........ Read more »
Oxley, T., Opie, N., John, S., Rind, G., Ronayne, S., Wheeler, T., Judy, J., McDonald, A., Dornom, A., Lovell, T.... (2016) Minimally invasive endovascular stent-electrode array for high-fidelity, chronic recordings of cortical neural activity. Nature Biotechnology. DOI: 10.1038/nbt.3428
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
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
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
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