scholarly journals The Emerging Role of Epigenetics in Therapeutic Targeting of Cardiomyopathies

2021 ◽  
Vol 22 (16) ◽  
pp. 8721
Author(s):  
Christina Pagiatakis ◽  
Vittoria Di Mauro
Keyword(s):  
Genetic Factors ◽  
Potential Role ◽  
Ventricular Cardiomyopathy ◽  
Myocardial Diseases ◽  
Substantial Progress ◽  
Functional Consequences ◽  
Cardiac Disorders ◽  
Original Classification

Cardiomyopathies (CMPs) are a heterogeneous group of myocardial diseases accountable for the majority of cases of heart failure (HF) and/or sudden cardiac death (SCD) worldwide. With the recent advances in genomics, the original classification of CMPs on the basis of morphological and functional criteria (dilated (DCM), hypertrophic (HCM), restrictive (RCM), and arrhythmogenic ventricular cardiomyopathy (AVC)) was further refined into genetic (inherited or familial) and acquired (non-inherited or secondary) forms. Despite substantial progress in the identification of novel CMP-associated genetic variations, as well as improved clinical recognition diagnoses, the functional consequences of these mutations and the exact details of the signaling pathways leading to hypertrophy, dilation, and/or contractile impairment remain elusive. To date, global research has mainly focused on the genetic factors underlying CMP pathogenesis. However, growing evidence shows that alterations in molecular mediators associated with the diagnosis of CMPs are not always correlated with genetic mutations, suggesting that additional mechanisms, such as epigenetics, may play a role in the onset or progression of CMPs. This review summarizes published findings of inherited CMPs with a specific focus on the potential role of epigenetic mechanisms in regulating these cardiac disorders.

Response to ‘Classification of cerebral palsy and potential role of video recording’

2018 ◽  
Vol 22 (1) ◽  
pp. 211-212
Author(s):  
Hendriekje Eggink ◽  
Daan Kremer ◽  
Marina A.J. Tijssen
Keyword(s):  
Cerebral Palsy ◽  
Potential Role ◽  
Video Recording

scholarly journals Structural plasticity of actin-spectrin membrane skeleton and functional role of actin and spectrin in axon degeneration

eLife ◽  
2019 ◽  
Vol 8 ◽  
Author(s):  
Guiping Wang ◽  
David J Simon ◽  
Zhuhao Wu ◽  
Deanna M Belsky ◽  
Evan Heller ◽  
...  
Keyword(s):  
Potential Role ◽  
Structural Plasticity ◽  
Membrane Skeleton ◽  
Retrograde Signaling ◽  
Axon Degeneration ◽  
Protein Loss ◽  
Connectivity Patterns ◽  
Substantial Progress ◽  
Made In

Axon degeneration sculpts neuronal connectivity patterns during development and is an early hallmark of several adult-onset neurodegenerative disorders. Substantial progress has been made in identifying effector mechanisms driving axon fragmentation, but less is known about the upstream signaling pathways that initiate this process. Here, we investigate the behavior of the actin-spectrin-based Membrane-associated Periodic Skeleton (MPS), and effects of actin and spectrin manipulations in sensory axon degeneration. We show that trophic deprivation (TD) of mouse sensory neurons causes a rapid disassembly of the axonal MPS, which occurs prior to protein loss and independently of caspase activation. Actin destabilization initiates TD-related retrograde signaling needed for degeneration; actin stabilization prevents MPS disassembly and retrograde signaling during TD. Depletion of βII-spectrin, a key component of the MPS, suppresses retrograde signaling and protects axons against degeneration. These data demonstrate structural plasticity of the MPS and suggest its potential role in early steps of axon degeneration.

Classification of epilepsy syndromes and role of genetic factors

2001 ◽  
Vol 24 (1) ◽  
pp. 37-43 ◽  
Author(s):  
Roula N Choueiri ◽  
Michel N Fayad ◽  
Antoine Farah ◽  
Mohamad A Mikati
Keyword(s):  
Genetic Factors

scholarly journals Potential role for lipopolysaccharide in congenital sensorineural hearingloss

2010 ◽  
Vol 59 (4) ◽  
pp. 377-383 ◽  
Author(s):  
A. L. Smit ◽  
R. J. Stokroos ◽  
S. G. H. Litjens ◽  
B. Kremer ◽  
B. W. Kramer
Keyword(s):  
Hearing Loss ◽  
Comparative Analysis ◽  
Sensorineural Hearing Loss ◽  
Genetic Factors ◽  
Potential Role ◽  
Experimental Studies ◽  
Intrauterine Infection ◽  
Live Births ◽  
Inner Ear Damage

Congenital sensorineural hearing loss (SNHL) is common. In theWestern world, the incidence is 1–3 per 1000 live births. The aetiologyencompasses genetic and non-genetic factors accounting for 55 %and 45 % of cases, respectively. Reports that describe the contributionof intrauterine infection to the occurrence of congenital SNHL are limited,and comparative analysis of the different pathogens is lacking. Lipopolysaccharide (LPS),a product of bacteriolysis, has been demonstrated to be associated with innerear damage in experimental studies. To elucidate the potential role of thistoxin in congenital SNHL and to identify the pathogenesis and transmissionroutes, we reviewed the literature. We speculate that different routes ofexposure to LPS in utero may result in congenital inner ear damage.

Elucidating The Genetic Factors Contributing Towards Susceptibility And Severity Of Covid 19

2021 ◽  
Vol 01 ◽  
Author(s):  
Syeda Marriam Bakhtiar ◽  
Syeda Eeman Zahra Bokhari ◽  
Iqra Riasat ◽  
Erum Dilshad
Keyword(s):  
Risk Factors ◽  
Chronic Disease ◽  
Genetic Factors ◽  
Potential Role ◽  
Viral Transmission ◽  
Modifiable Risk Factors ◽  
Animal Host ◽  
Factors Associated ◽  
Human Source

: COVID-19 or SARS-CoV-2 or 2019-nCov is a pandemic disease that occurred in December 2019 from Wuhan, Hubei Province of China. It was first transmitted from the animal host to a human source, after which it followed human-human transmission and spread exponentially worldwide. Various countries have fallen prey to this virus, but there are certain countries or populations, which have been more affected by this than others. Moreover, the demographics of transmission and affected individuals are also variable from country-country. The purpose of this article is to highlight the non-modifiable risk factors for COVID-19 and their analysis in various populations affecting their susceptibility. Besides age, gender, and blood group, two major genetic factors associated with this disease are discussed here including the potential of IL-6, in causing chronic disease conditions and the rs1800795 G/C-174 IL-6 polymorphism in the IL-6 gene and with the potential role of ACE-2 receptor in viral transmission and pathogenicity with its protective and disease-causing variants.

scholarly journals 5-HT and GABA Modulate Intrinsic Excitability of Type I Interneurons in Hermissenda

2009 ◽  
Vol 102 (5) ◽  
pp. 2825-2833 ◽  
Author(s):  
Nan Ge Jin ◽  
Lian-Ming Tian ◽  
Terry Crow
Keyword(s):  
Hair Cells ◽  
Spike Activity ◽  
Potential Role ◽  
Neuronal Excitability ◽  
Intrinsic Excitability ◽  
Resting Membrane Potential ◽  
Type I ◽  
Outward Currents

The sensory neurons (photoreceptors) in the visual system of Hermissenda are one site of plasticity produced by Pavlovian conditioning. A second site of plasticity produced by conditioning is the type I interneurons in the cerebropleural ganglia. Both photoreceptors and statocyst hair cells of the graviceptive system form monosynaptic connections with identified type I interneurons. Two proposed neurotransmitters in the graviceptive system, serotonin (5-HT) and γ-aminobutyric acid (GABA), have been shown to modify synaptic strength and intrinsic neuronal excitability in identified photoreceptors. However, the potential role of 5-HT and GABA in plasticity of type I interneurons has not been investigated. Here we show that 5-HT increased the peak amplitude of light-evoked complex excitatory postsynaptic potentials (EPSPs), enhanced intrinsic excitability, and increased spike activity of identified type Ie(A) interneurons. In contrast, 5-HT decreased spike activity and intrinsic excitability of type Ie(B) interneurons. The classification of two categories of type Ie interneurons was also supported by the observation that 5-HT produced opposite effects on whole cell steady-state outward currents in type Ie interneurons. Serotonin produced a reduction in the amplitude of light-evoked complex inhibitory PSPs (IPSPs), increased spontaneous spike activity, decreased intrinsic excitability, and depolarized the resting membrane potential of identified type Ii interneurons. In contrast to the effects of 5-HT, GABA produced inhibition in both types of Ie interneurons and type Ii interneurons. These results show that 5-HT and GABA can modulate the intrinsic excitability of type I interneurons independent of the presynaptic effects of the same transmitters on excitability and synaptic efficacy of photoreceptors.

Classification of cerebral palsy and potential role of video recording

2018 ◽  
Vol 22 (1) ◽  
pp. 209-210
Author(s):  
Riccardo Masson ◽  
Emanuela Pagliano ◽  
Giovanni Baranello
Keyword(s):  
Cerebral Palsy ◽  
Potential Role ◽  
Video Recording

Increased Expression of Serine Palmitoyltransferase (SPT) in Balloon-injured Rat Carotid Artery

2001 ◽  
Vol 86 (11) ◽  
pp. 1320-1326 ◽  
Author(s):  
Jill Carton ◽  
Dennis Argentieri ◽  
Bruce Damiano ◽  
Michael D’Andrea ◽  
David Uhlinger
Keyword(s):  
Vascular Injury ◽  
Potential Role ◽  
De Novo ◽  
Serine Palmitoyltransferase ◽  
Proliferating Cells ◽  
Wound Healing Response ◽  
Complex Wound ◽  
Functional Consequences ◽  
Sphingolipid Biosynthesis

SummaryThe response to vascular injury is a complex wound healing response involving cell proliferation, migration, remodeling and inflammation. In the present studies we employed a rat balloon angioplasty model of vascular injury to investigate the potential role of sphingolipid signaling in the response to vascular injury. The enzyme serine palmitoyltransferase (SPT) catalyzes the first committed step in de novo sphingolipid biosynthesis. We observed marked upregulation of expression of both SPT subunits in actively proliferating cells in injured vessels. This enhanced SPT expression occurs in de-differentiated fibroblasts and proliferating vascular smooth muscle cells. The upregulation is particularly apparent in the proliferating luminal edge of the neointima and the adventitial de-differentiated fibroblasts and may serve as a hallmark of this process. The possible functional consequences of this enzyme upregulation and its role in the response to vascular injury are suggested but remain to be determined.

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