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https://www.readbyqxmd.com/read/27920829/clinical-and-genetic-features-of-australian-families-with-long-qt-syndrome-a-registry-based-study
#1
Charlotte Burns, Jodie Ingles, Andrew M Davis, Vanessa Connell, Belinda Gray, Lauren Hunt, Julie McGaughran, Christopher Semsarian
BACKGROUND: Familial long QT syndrome (LQTS) is a primary arrhythmogenic disorder caused by mutations in ion channel genes. The phenotype ranges from asymptomatic individuals to sudden cardiac arrest and death. LQTS is a rare but significant health problem for which global data should exist. This study sought to provide the first clinical and genetic description of Australian families with LQTS. METHODS: We performed a cross-sectional study to evaluate clinical and genetic features of families with LQTS...
December 2016: Journal of Arrhythmia
https://www.readbyqxmd.com/read/27920282/nmda-receptor-encephalitis-and-other-antibody-mediated-disorders-of-the-synapse-the-2016-cotzias-lecture
#2
Josep Dalmau
Investigations during the last 10 years have revealed a group of disorders mediated by antibodies against ion channels and synaptic receptors, which cause both neurologic and psychiatric symptoms. In this review, I discuss the process of discovery and immunologic triggers of these disorders, and use anti-NMDA receptor encephalitis to emphasize the importance of understanding the underlying physiopathologic mechanisms in those diseases. A better knowledge of these mechanisms reveals points of convergence with other disorders (e...
December 6, 2016: Neurology
https://www.readbyqxmd.com/read/27916649/new-horizons-for-cystic-fibrosis-treatment
#3
REVIEW
Isabelle Fajac, Kris De Boeck
Cystic fibrosis is an inherited multi-system disease associated with chronic lung infection, malabsorption, salt loss syndromes, male infertility and leading to numerous comorbidities. The landscape in cystic fibrosis care has changed markedly with currently more adult patients than children in many countries. Over 2000 different mutations in theCFTRgene have been reported and the majority are extremely rare. Understanding howCFTRmutations translate to disturbed synthesis or function of the CFTR protein has opened the way to 'personalized' treatments to correct the basic defect...
December 1, 2016: Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/27913210/trpv4-activation-of-endothelial-nitric-oxide-synthase-resists-nonalcoholic-fatty-liver-disease-by-blocking-cyp2e1-mediated-redox-toxicity
#4
Ratanesh K Seth, Suvarthi Das, Diptadip Dattaroy, Varun Chandrashekaran, Firas Alhasson, Gregory Michelotti, Mitzi Nagarkatti, Prakash Nagarkatti, Anna Mae Diehl, Darwin P Bell, Wolfgang Liedtke, Saurabh Chatterjee
NAFLD is a clinically progressive disease with steatosis, inflammation, endothelial dysfunction and fibrosis being the stages where clinical intervention becomes necessary. Lack of early biomarkers and absence of a FDA approved drug obstructs efforts for effective treatment. NAFLD progression is strongly linked to a balance between liver injury, tissue regeneration and the functioning of endogenous defense mechanisms. The failure of the defense pathways to resist the tissue damage arising from redox stress, one of the "multiple hits" in disease progression, give rise to heightened inflammation and occasional fibrosis...
November 29, 2016: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/27904993/molecular-mechanisms-of-heart-failure-insights-from-drosophila
#5
Shasha Zhu, Zhe Han, Yan Luo, Yulin Chen, Qun Zeng, Xiushan Wu, Wuzhou Yuan
Heart failure places an enormous burden on health and economic systems worldwide. It is a complex disease that is profoundly influenced by both genetic and environmental factors. Neither the molecular mechanisms underlying heart failure nor effective prevention strategies are fully understood. Fortunately, relevant aspects of human heart failure can be experimentally studied in tractable model animals, including the fruit fly, Drosophila, allowing the in vivo application of powerful and sophisticated molecular genetic and physiological approaches...
December 1, 2016: Heart Failure Reviews
https://www.readbyqxmd.com/read/27896999/identify-cancer-driver-genes-through-shared-mendelian-disease-pathogenic-variants-and-cancer-somatic-mutations
#6
Meng Ma, Changchang Wang, Benjamin S Glicksberg, Eric E Schadt, Shuyu D Li, Rong Chen
Genomic sequencing studies in the past several years have yielded a large number of cancer somatic mutations. There remains a major challenge in delineating a small fraction of somatic mutations that are oncogenic drivers from a background of predominantly passenger mutations. Although computational tools have been developed to predict the functional impact of mutations, their utility is limited. In this study, we applied an alternative approach to identify potentially novel cancer drivers as those somatic mutations that overlap with known pathogenic mutations in Mendelian diseases...
2016: Pacific Symposium on Biocomputing
https://www.readbyqxmd.com/read/27891521/food-derived-natural-compounds-for-pain-relief-in-neuropathic-pain
#7
REVIEW
Eun Yeong Lim, Yun Tai Kim
Neuropathic pain, defined as pain caused by a lesion or disease of the somatosensory nervous system, is characterized by dysesthesia, hyperalgesia, and allodynia. The number of patients with this type of pain has increased rapidly in recent years. Yet, available neuropathic pain medicines have undesired side effects, such as tolerance and physical dependence, and do not fully alleviate the pain. The mechanisms of neuropathic pain are still not fully understood. Injury causes inflammation and immune responses and changed expression and activity of receptors and ion channels in peripheral nerve terminals...
2016: BioMed Research International
https://www.readbyqxmd.com/read/27881662/the-polycystins-are-modulated-by-cellular-oxygen-sensing-pathways-and-regulate-mitochondrial-function
#8
Valeria Padovano, Ivana Y Kuo, Lindsey K Stavola, Hans R Aerni, Benjamin J Flaherty, Hannah C Chapin, Ming Ma, Stefan Somlo, Alessandra Boletta, Barbara E Ehrlich, Jesse Rinehart, Michael J Caplan
Autosomal dominant polycystic kidney disease is caused by mutations in the genes encoding polycystin-1 (PC1) and polycystin-2 (PC2), which form an ion channel complex that may mediate ciliary sensory processes and regulate endoplasmic reticulum Ca(2+) release. Loss of PC1 expression profoundly alters cellular energy metabolism. The mechanisms that control the trafficking of PC1 and PC2 as well as their broader physiological roles remain poorly understood. We found that O2 levels regulate the subcellular localization and the channel activity of the polycystin complex through its interaction with the O2-sensing prolyl hydroxylase domain containing protein EGLN3 (or PHD3), which hydroxylates PC1...
November 23, 2016: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/27881552/cardiac-t-tubule-microanatomy-and-function
#9
REVIEW
TingTing Hong, Robin M Shaw
Unique to striated muscle cells, transverse tubules (t-tubules) are membrane organelles that consist of sarcolemma penetrating into the myocyte interior, forming a highly branched and interconnected network. Mature t-tubule networks are found in mammalian ventricular cardiomyocytes, with the transverse components of t-tubules occurring near sarcomeric z-discs. Cardiac t-tubules contain membrane microdomains enriched with ion channels and signaling molecules. The microdomains serve as key signaling hubs in regulation of cardiomyocyte function...
January 2017: Physiological Reviews
https://www.readbyqxmd.com/read/27878516/axonal-excitability-in-amyotrophic-lateral-sclerosis-axonal-excitability-in-als
#10
REVIEW
Susanna B Park, Matthew C Kiernan, Steve Vucic
Axonal excitability testing provides in vivo assessment of axonal ion channel function and membrane potential. Excitability techniques have provided insights into the pathophysiological mechanisms underlying the development of neurodegeneration and clinical features of amyotrophic lateral sclerosis (ALS) and related neuromuscular disorders. Specifically, abnormalities of Na(+) and K(+) conductances contribute to development of membrane hyperexcitability in ALS, thereby leading to symptom generation of muscle cramps and fasciculations, in addition to promoting a neurodegenerative cascade via Ca(2+)-mediated processes...
November 22, 2016: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/27877078/activation-of-the-cxcl16-cxcr6-pathway-by-inflammation-contributes-to-atherosclerosis-in-patients-with-end-stage-renal-disease
#11
Ze Bo Hu, Yan Chen, Yu Xiang Gong, Min Gao, Yang Zhang, Gui Hua Wang, Ri Ning Tang, Hong Liu, Bi Cheng Liu, Kun Ling Ma
Background: Chronic inflammation plays a critical role in the progression of atherosclerosis (AS). This study aimed to determine the effects of the CXC chemokine ligand 16 (CXCL16)/CXC chemokine receptor 6 (CXCR6) pathway on cholesterol accumulation in the radial arteries of end-stage renal disease (ESRD) patients with concomitant microinflammation and to further investigate the potential effects of the purinergic receptor P2X ligand-gated ion channel 7 (P2X7R). Methods: Forty-three ESRD patients were divided into the control group (n=17) and the inflamed group (n=26) based on plasma C-reactive protein (CRP) levels...
2016: International Journal of Medical Sciences
https://www.readbyqxmd.com/read/27875972/the-role-of-chinese-herbal-medicines-and-bioactive-ingredients-targeting-myocardial-kca-and-katp-channels-in-cardiovascular-diseases
#12
Yan Dong, Pengqian Wang, Xue Feng, Bing Li, Zhong Wang, Haixia Li
Cardiovascular disorders are the most common diseases all over the world, which have limitations in the current treatment strategies. As two subtypes of potassium channel, KCa and KATP ion channels are playing important roles in the occurrence and development of cardiovascular diseases. KCa by activating the signal pathway of c-Src/PI3-kinase/Akt-dependent or eNOS-NO-cGMP affects the function of vascular endothelial cell, while KATP acting as medium combines the cell electrical activity and energy metabolism...
November 22, 2016: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/27870426/sex-dependent-effects-of-nicotine-on-the-developing-brain
#13
REVIEW
Sarah J Cross, Kay E Linker, Frances M Leslie
The use of tobacco products represents a major public health concern, especially among women. Epidemiological data have consistently demonstrated that women have less success quitting tobacco use and a higher risk for developing tobacco-related diseases. The deleterious effects of nicotine are not restricted to adulthood, as nicotinic acetylcholine receptors regulate critical aspects of neural development. However, the exact mechanisms underlying the particular sensitivity of women to develop tobacco dependence have not been well elucidated...
January 2, 2017: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/27868128/the-role-of-stim1-in-the-cr-vi-induced-ca-2-i-increase-and-cell-injury-in-l-02-hepatocytes
#14
Xing Yi, Yujing Zhang, Caigao Zhong, Xiali Zhong, Fang Xiao
Hexavalent chromium [Cr(vi)] is a potent cytotoxin and carcinogen. In recent years, drinking water contamination with Cr(vi) has become a worldwide problem of significant public health importance, thus much attention has been paid to the investigation of Cr(vi)-induced hepatotoxicity. The concentration of intracellular calcium ions ([Ca(2+)]i) was found to be increased after Cr(vi) exposure, but the exact underlying mechanisms involved in the Ca(2+) homeostasis imbalance remain poorly characterized. In the present study, by utilizing the antagonist of store-operated calcium channels (SOCCs) 2-aminoethoxydiphenyl borate (2-APB), small interfering RNA against stromal interaction molecule 1 (si-STIM1) and antioxidant N-acetylcysteine (NAC), we found that Cr(vi) induces [Ca(2+)]i increase, cell viability loss and transaminase (AST/ALT) leakage, and that these could be suppressed by both 2-APB and si-STIM1...
November 21, 2016: Metallomics: Integrated Biometal Science
https://www.readbyqxmd.com/read/27866730/hereditary-neuropathies-an-update
#15
REVIEW
T Stojkovic
Hereditary neuropathies are the most common inherited neuromuscular diseases. Charcot-Marie-Tooth (CMT) disease represents the most common form with an average prevalence ranging from 1/2500 to 1/1200, depending on the studies. To date and with the advances of the latest generation sequencing, more than 80 genes have been identified. Although the common clinical phenotype comprises a progressive distal muscle weakness and sensory loss, foot deformities and decreased or absent tendon reflexes, clinical and electrophysiological phenotypes exhibit great variability...
December 2016: Revue Neurologique
https://www.readbyqxmd.com/read/27863892/pericarditis-mimicking-brugada-syndrome-a-case-report
#16
Manuel Monti, Giulia Olivi, Francesca Francavilla, Francesco Borgognoni
INTRODUCTION: Brugada syndrome (BrS) is a genetic heart disorder due to alteration of the ion channels function that causes an impaired in the cardiac conduction system. It is characterized by an abnormal electrocardiogram pattern and may be complicated by malignant ventricular arrhythmias. Pericarditis is an inflammation of the pericardium and 90% of isolated cases of acute pericarditis are idiopathic or viral. Acute pericarditis may appears with chest pain, fever, pericardial friction rub, and cardiac tamponade...
November 9, 2016: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/27855659/mtor-and-mapk-from-localized-translation-control-to-epilepsy
#17
REVIEW
Helena F Pernice, Rico Schieweck, Michael A Kiebler, Bastian Popper
BACKGROUND: Epilepsy is one of the most common neurological diseases characterized by excessive hyperexcitability of neurons. Molecular mechanisms of epilepsy are diverse and not really understood. All in common is the misregulation of proteins that determine excitability such as potassium and sodium channels as well as GABA receptors; which are all known as biomarkers for epilepsy. Two recently identified key pathways involve the kinases mechanistic target of rapamycin (mTOR) and mitogen-activated protein kinases (MAPK)...
November 17, 2016: BMC Neuroscience
https://www.readbyqxmd.com/read/27852607/ion-transport-in-the-zebrafish-kidney-from-a-human-disease-angle-possibilities-considerations-and-future-perspectives
#18
Simone Kersten, Francisco J Arjona
Unique experimental advantages, such as its embryonic/larval transparency, high-throughput nature and ease of genetic modification, underpin the rapid emergence of the zebrafish (Danio rerio) as a preeminent model in biomedical research. Particularly in the field of nephrology, the zebrafish provides a promising model for studying the physiological implications of human solute transport processes along consecutive nephron segments. However, while the zebrafish might be considered a valuable model for numerous renal ion transport diseases and functional studies of many channels and transporters, not all human renal electrolyte transport mechanisms and human diseases can be modeled in the zebrafish...
November 16, 2016: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/27843126/biallelic-loss-of-proprioception-related-piezo2-causes-muscular-atrophy-with-perinatal-respiratory-distress-arthrogryposis-and-scoliosis
#19
Andrea Delle Vedove, Markus Storbeck, Raoul Heller, Irmgard Hölker, Malavika Hebbar, Anju Shukla, Olafur Magnusson, Sebahattin Cirak, Katta M Girisha, Mary O'Driscoll, Bart Loeys, Brunhilde Wirth
We report ten individuals of four independent consanguineous families from Turkey, India, Libya, and Pakistan with a variable clinical phenotype that comprises arthrogryposis, spontaneously resolving respiratory insufficiency at birth, muscular atrophy predominantly of the distal lower limbs, scoliosis, and mild distal sensory involvement. Using whole-exome sequencing, SNPchip-based linkage analysis, DNA microarray, and Sanger sequencing, we identified three independent homozygous frameshift mutations and a homozygous deletion of two exons in PIEZO2 that segregated in all affected individuals of the respective family...
November 3, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27835900/kcnj3-is-a-new-independent-prognostic-marker-for-estrogen-receptor-positive-breast-cancer-patients
#20
Sarah Kammerer, Armin Sokolowski, Hubert Hackl, Dieter Platzer, Stephan Wenzel Jahn, Amin El-Heliebi, Daniela Schwarzenbacher, Verena Stiegelbauer, Martin Pichler, Simin Rezania, Heidelinde Fiegl, Florentia Peintinger, Peter Regitnig, Gerald Hoefler, Wolfgang Schreibmayer, Thomas Bauernhofer
Numerous studies showed abnormal expression of ion channels in different cancer types. Amongst these, the potassium channel gene KCNJ3 (encoding for GIRK1 proteins) has been reported to be upregulated in tumors of patients with breast cancer and to correlate with positive lymph node status. We aimed to study KCNJ3 levels in different breast cancer subtypes using gene expression data from the TCGA, to validate our findings using RNA in situ hybridization in a validation cohort (GEO ID GSE17705), and to study the prognostic value of KCNJ3using survival analysis...
November 8, 2016: Oncotarget
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