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Current Challenges in Cardiovascular Molecular Diagnostics

Authors: --- --- --- --- et al.
Book Series: Frontiers Research Topics ISSN: 16648714 ISBN: 9782889452811 Year: Pages: 128 DOI: 10.3389/978-2-88945-281-1 Language: English
Publisher: Frontiers Media SA
Subject: Medicine (General)
Added to DOAB on : 2018-02-27 16:16:44
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Abstract

The field of cardiovascular genetics has tremendously benefited from the recent application of massive parallel sequencing technology also referred to as next generation sequencing (NGS). However, along with the discovery of additional genes associated with human cardiac diseases, the analysis of large dataset of genetic information uncovered a much more complex and variegated landscape, which often departs from the comfort zone of the monogenic Mendelian diseases image that clinical molecular geneticists have been well acquainted with for many decades. It is now clear that, in addition to highly penetrant genetic variants, which in isolation are able to recapitulate the full clinical presentation when expressed in animal models, we are now aware that a small but significant fraction of subjects presenting with cardiac muscle diseases such as cardiomyopathies or primary arrhythmias such as long QT syndrome (LQTS), may harbor at least two deleterious variants in the same gene (compound heterozygous) or in different gene (double heterozygous). Although the clinical presentation in subjects with more than one deleterious variant appears to be more severe and with an earlier disease onset, it somehow changes the viewpoint of clinical molecular geneticists whose aim is to identify all possible genetic contributors to a human condition. In this light, the employment in clinical diagnostics of the NGS technology, allowing the simultaneous interrogation of a DNA target spanning from large panel of genes up to the entire genome, will definitely aid at uncovering all such contributors, which will have to be tested functionally to confirm their role in human cardiac conditions. The uncovering of all clinically relevant deleterious changes associated with a cardiovascular disease would probably increase our understanding of the clinical variability commonly occurring among affected family relatives, and potentially provide with unexpected therapeutic targets for the treatment of symptoms related to the presence of “accessory” deleterious genetic variants other than the key molecular culprit. The objective of this Research Topic is to explore the current challenges presenting to the cardiovascular genetics providers, such as clinical geneticists, genetic counselors, clinical molecular geneticists and molecular pathologists involved in the diagnosis, counseling, testing and interpretation of genetic tests results for the comprehensive management of patients affected by cardiovascular genetic disorders.

Mitochondrial Dysfunction in Aging and Diseases of Aging

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ISBN: 9783039213276 / 9783039213283 Year: Pages: 270 DOI: 10.3390/books978-3-03921-328-3 Language: eng
Publisher: MDPI - Multidisciplinary Digital Publishing Institute
Subject: Science (General) --- Biology
Added to DOAB on : 2019-12-09 11:49:15
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This collection of review articles authored by international experts pulls together current information about the role of mitochondria in aging and diseases of aging. Mitochondria are vitally important cellular organelles and undergo their own aging process becoming less efficient in aged animals including humans. These changes have wide-ranging significance contributing to immune dysfunction (autoimmunity and immune deficiency), inflammation, delayed healing, skin and retinal damage, cancer and most of the degenerative diseases of aging. Mitochondrial aging predisposes to drug toxicity in the geriatric population and to many of the features of normal aging. The research detailed in this book summarizes current understanding of the role of mitochondria in the complex molecular changes of aging, moving on to specific diseases of aging. Mitochondrial dysfunction is an important target for development of treatments for aging and disease. The last article details how exercise is a treatment and combats many features of the aging process.

Keywords

aging --- mitochondria --- inflammation --- innate immunity --- adaptive immunity --- immunosenescence --- cell danger response --- healing cycle --- mitochondria --- purinergic signaling --- metabokines --- sphingolipids --- integrated cell stress response --- de-emergence --- crabtree effect --- pasteur effect --- coenzyme Q10 --- aging --- age-related diseases --- mitochondrial dysfunction --- mitochondria --- skin --- ageing --- reactive oxygen species --- photoageing --- 25(OH)D --- 1,25(OH)2D --- aging --- cytokines --- inflammation --- morbidity and mortality --- prevention --- reactive oxygen species --- ultraviolet --- aging --- mitochondria --- retina --- optic nerve --- diabetic retinopathy --- age-related macular degeneration --- glaucoma --- drug-induced mitochondrial toxicity --- polypharmacy --- aging --- mitochondrial dysfunction --- insulin resistance --- type 2 diabetes --- mitochondrial transfer --- exosomes --- mitochondrial --- genetic mutations --- cardiovascular disease --- heart failure --- cardiomyopathy --- mitochondria --- cancer --- nucleotide metabolism --- DNA damage --- NAD+ --- mitochondria --- ALS --- axonal transport --- mitophagy --- SOD1 --- Miro1 --- PINK1 --- Parkin --- multiple sclerosis --- mitochondria --- neuroinflammation --- neurodegeneration --- Parkinson’s disease --- mitochondria --- ageing --- neurodegenerative disease --- Alzheimer’s disease --- eIF2? --- metabolism --- mitochondria --- proteostasis --- stress response --- aging --- exercise --- mitochondria --- aerobic --- ROS --- inflammation --- senescence --- lysosome --- autophagy --- mitophagy --- n/a

Protective and Detrimental Role of Heme Oxygenase-1

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ISBN: 9783039218066 / 9783039218073 Year: Pages: 220 DOI: 10.3390/books978-3-03921-807-3 Language: eng
Publisher: MDPI - Multidisciplinary Digital Publishing Institute
Subject: Medicine (General) --- Therapeutics
Added to DOAB on : 2019-12-09 11:49:16
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The book “Protective and Detrimental Role of Heme Oxygenase-1”, includes a selection of original research papers and reviews aimed at understanding the dual role (protective and detrimental) of HO-1 and the involved signaling pathways. Original research papers and reviews aimed at the identification of natural molecules or new synthetic compounds able to modulate HO-1 activity/expression help make HO-1 a potential therapeutic target for the amelioration of various diseases.

Keywords

ferroptosis --- heme oxygenase-1 --- iron --- reactive oxygen species --- glutathione --- chemotherapy --- paracetamol --- Myristica fragrans kernels --- heme oxygenase 1 --- liver --- glucocorticoid receptor --- GR --- heme oxygenase 1 --- HO-1 --- prostate cancer --- ANTIGEN presenting cell --- tolerance --- Tet-ON system --- antigen presentation --- analgesia --- carbon monoxide --- heme oxygenase 1 --- inflammatory pain --- locus coeruleus --- nitric oxide --- bilirubin --- Gunn rats --- hyperbilirubinemia --- inflammation --- LPS --- NF-?B --- caloric restriction --- Sirtuin 1 --- Heme Oxygenase-1 --- PGC-1? --- cardiomyopathy --- diabetes mellitus --- Type 1 diabetes mellitus (T1D) --- Pancreatic oxidative damage --- Heme oxygenase-1 (HO-1) inducers --- Caffeic acid phenethyl ester (CAPE) --- Reactive oxygen species (ROS) --- Dimethylarginine dimethylaminohydrolase-1 (DDAH-1) --- Inducible nitric oxide synthase (iNOS) --- Gamma-Glutamyl-Cysteine Ligase (GGCL) --- prostate cancer --- heme oxygenase --- metformin --- apoptosis --- ER stress --- HO-1 activity inhibitor --- carbon monoxide --- lung preservation --- ischemia–reperfusion injury --- high-pressure gas --- Colon cancer --- Betula etnensis Raf. --- oxidative stress --- heme oxigenase-1 --- ferroptosis --- thiol groups --- angiotensin II --- mineralocorticoid receptor --- heme oxygenase 1 --- sirtuin 1 --- adipocytes --- oxidative stress --- heme oxygenase-1 --- atherosclerosis --- coronary artery disease --- peripheral artery disease --- carotid plaque --- heme oxygenase --- endoplasmic reticulum stress --- hemoglobin --- heme --- n/a

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