Looking into a whale’s heart: investigating a genetic basis for cardiomyopathy in a non-model species

Genome ◽  
2017 ◽  
Vol 60 (8) ◽  
pp. 695-705
Author(s):  
Amélia Viricel ◽  
Patricia E. Rosel
Keyword(s):  
Mammalian Species ◽  
Mutation Screening ◽  
Sperm Whale ◽  
Muscle Disease ◽  
Control Group ◽  
Incomplete Penetrance ◽  
Model Species ◽  
Cetacean Species ◽  
Deep Diving ◽  
Age Related

Understanding the pathogenesis of complex diseases can benefit from multi-species comparative studies. Yet these studies rarely include natural populations of non-model species. Here, we focused on the cause of a heart muscle disease, cardiomyopathy (CM), affecting multiple mammalian species including humans, cats, dogs, and certain species of whales. Mutations in genes coding for sarcomeric proteins have been identified as a leading cause for CM in humans, and some were also revealed to be responsible for CM in cats. We investigated whether similar mutations could be detected in the deep-diving pygmy sperm whale (Kogia breviceps), which is one of two cetacean species known to display CM. We sequenced portions of two candidate genes (MYH7: 3153 bp and MYBPC3: 3019 bp) in 55 whales including affected and unaffected individuals. Mutation screening revealed six nonsynonymous substitutions that were predicted to have an effect on protein function. However, the etiology of CM is likely complex and probably multi-factorial as three of these mutations were observed in unaffected individuals from our control group. This incomplete penetrance could be partly age-related and could also be due to the influence of environmental factors on the development of CM, as seen in humans.

scholarly journals Histopathological Features and Protein Markers of Arrhythmogenic Cardiomyopathy

2021 ◽  
Vol 8 ◽  
Author(s):  
Carlos Bueno-Beti ◽  
Angeliki Asimaki
Keyword(s):  
Cardiac Myocytes ◽  
Left Ventricular ◽  
Muscle Disease ◽  
Incomplete Penetrance ◽  
Protein Markers ◽  
Cell Coupling ◽  
Arrhythmogenic Cardiomyopathy ◽  
Right Ventricular Free Wall ◽  
Cascade Screening ◽  
Age Related

Arrhythmogenic cardiomyopathy (ACM) is a heritable heart muscle disease characterized by syncope, palpitations, ventricular arrhythmias and sudden cardiac death (SCD) especially in young individuals. It is estimated to affect 1:5,000 individuals in the general population, with >60% of patients bearing one or more mutations in genes coding for desmosomal proteins. Desmosomes are intercellular adhesion junctions, which in cardiac myocytes reside within the intercalated disks (IDs), the areas of mechanical and electrical cell-cell coupling. Histologically, ACM is characterized by fibrofatty replacement of cardiac myocytes predominantly in the right ventricular free wall though left ventricular and biventricular forms have also been described. The disease is characterized by age-related progression, vast phenotypic manifestation and incomplete penetrance, making proband diagnosis and risk stratification of family members particularly challenging. Key protein redistribution at the IDs may represent a specific diagnostic marker but its applicability is still limited by the need for a myocardial sample. Specific markers of ACM in surrogate tissues, such as the blood and the buccal epithelium, may represent a non-invasive, safe and inexpensive alternative for diagnosis and cascade screening. In this review, we shall cover the most relevant biomarkers so far reported and discuss their potential impact on the diagnosis, prognosis and management of ACM.

scholarly journals Contribution of social media to cetacean research in Southeast Asia: illuminating populations vulnerable to litter

2021 ◽  
Author(s):  
Amber Coram ◽  
Neil Angelo S. Abreo ◽  
Robert P. Ellis ◽  
Kirsten F. Thompson
Keyword(s):  
Social Media ◽  
Southeast Asia ◽  
Sperm Whale ◽  
The Philippines ◽  
Marine Debris ◽  
Cetacean Species ◽  
Marine Litter ◽  
Deep Diving ◽  
Marine Megafauna ◽  
The Impact

AbstractLitter in the marine environment, in particular plastic, is a significant threat to marine megafauna. Cetaceans are known to ingest or become entangled in marine debris, likely impacting individuals and populations. Southeast Asia is a biodiversity hotspot and harbours a diverse cetacean assemblage. However, there are key knowledge gaps relating to the impact of litter in this region due the lack of experts to survey its vast coastlines. This study aims to address such gaps by using social media, gathering data from Facebook posts relating to cetacean strandings and litter across Southeast Asia between 2009 and 2019. Results show that at least 15 cetacean species have been negatively affected by litter, with ingestion most commonly affecting deep-diving species. Epipelagic and mesopelagic foragers were most vulnerable to entanglement. Davao in the Philippines was identified as a litter-related stranding hotspot. The Irrawaddy dolphin (Orcaella brevirostris) and pygmy sperm whale (Kogia breviceps) are particularly vulnerable to litter. The combination of social media and peer reviewed literature can help build a more complete picture of the spatial distribution of marine litter and the scale of the impact it has on cetacean populations. In this study we provide details of a valuable online tool for helping to understand the impact of marine litter on cetaceans and other charismatic species that are a focus of community engagement.

Oral and Oropharyngeal Sensory Function in Adults With Chronic Obstructive Pulmonary Disease

2020 ◽  
Vol 29 (2) ◽  
pp. 864-872
Author(s):  
Fernanda Borowsky da Rosa ◽  
Adriane Schmidt Pasqualoto ◽  
Catriona M. Steele ◽  
Renata Mancopes
Keyword(s):  
Chronic Obstructive Pulmonary Disease ◽  
Oral Cavity ◽  
Pulmonary Disease ◽  
Thermal Sensation ◽  
Sensory Function ◽  
Control Group ◽  
Chronic Obstructive ◽  
Obstructive Pulmonary Disease ◽  
Age Related ◽  
Copd Patients

Introduction The oral cavity and pharynx have a rich sensory system composed of specialized receptors. The integrity of oropharyngeal sensation is thought to be fundamental for safe and efficient swallowing. Chronic obstructive pulmonary disease (COPD) patients are at risk for oropharyngeal sensory impairment due to frequent use of inhaled medications and comorbidities including gastroesophageal reflux disease. Objective This study aimed to describe and compare oral and oropharyngeal sensory function measured using noninstrumental clinical methods in adults with COPD and healthy controls. Method Participants included 27 adults (18 men, nine women) with a diagnosis of COPD and a mean age of 66.56 years ( SD = 8.68). The control group comprised 11 healthy adults (five men, six women) with a mean age of 60.09 years ( SD = 11.57). Spirometry measures confirmed reduced functional expiratory volumes (% predicted) in the COPD patients compared to the control participants. All participants completed a case history interview and underwent clinical evaluation of oral and oropharyngeal sensation by a speech-language pathologist. The sensory evaluation explored the detection of tactile and temperature stimuli delivered by cotton swab to six locations in the oral cavity and two in the oropharynx as well as identification of the taste of stimuli administered in 5-ml boluses to the mouth. Analyses explored the frequencies of accurate responses regarding stimulus location, temperature and taste between groups, and between age groups (“≤ 65 years” and “> 65 years”) within the COPD cohort. Results We found significantly higher frequencies of reported use of inhaled medications ( p < .001) and xerostomia ( p = .003) in the COPD cohort. Oral cavity thermal sensation ( p = .009) was reduced in the COPD participants, and a significant age-related decline in gustatory sensation was found in the COPD group ( p = .018). Conclusion This study found that most of the measures of oral and oropharyngeal sensation remained intact in the COPD group. Oral thermal sensation was impaired in individuals with COPD, and reduced gustatory sensation was observed in the older COPD participants. Possible links between these results and the use of inhaled medication by individuals with COPD are discussed.

Retinol, α-Tocopherol and Vitamin D3 in White MuscleDisease

2018 ◽  
Vol 74 (1) ◽  
pp. 6029-2018
Author(s):  
HANDAN MERT ◽  
SERKAN YİLDİRİM ◽  
IBRAHİM HAKKİ YORUK ◽  
KİVANC IRAK ◽  
BAHAT COMBA ◽  
...  
Keyword(s):  
Vitamin A ◽  
Vitamin D3 ◽  
White Muscle ◽  
Bone Structure ◽  
Early Stage ◽  
Vitamin A Deficiency ◽  
Muscle Disease ◽  
Control Group ◽  
White Muscle Disease ◽  
Fat Soluble Vitamins

Vitamins are essential for the health of all living organisms. Vitamins E, A, D and K are known as fat-soluble vitamins, and deprivation of vitamin E causes various disorders, especially in the reproduction and cardiovascular systems and in muscle functions. Vitamin A, on the other hand, has roles in various biological functions – like eyesight – and the growth, reproduction and differentiation of epithelial cells. Vitamin A deficiency leads to the keratinization of the epithelium, and disorders related to the metaplasies of the genital and genitourinary systems. Conversely, vitamin D is defined as a pro-hormone and is responsible for Cahomeostasis, and thus indirectly affects the bone metabolism, bone structure, and cellular and neural functions of Ca. White muscle disease (WMD) can occur in newborn lambs, but is more commonly seen in lambs of up to 3 months of age. In this study, 30 lambs of 3 to 50-days-old from different flocks diagnosed with White Muscle Disease (WMD) were selected as research material, while the control group consisted of 8 healthy lambs. With the aim of clarifying the cause of WMD, serum fat-soluble vitamins, retinol, α-tocopherol and vitamin D3 levels were determined in 16 lambs. Gluteal and heart musclet issue samples also were taken from 30 lambs with WMD. The vitamin levels of the samples were analysed by HPLC. The levels of serum α-tocopherol, retinols, and vitamin D3 were foundto be low in the diseased animals, but only retinol (p<0.001) and α-tocopherol (p<0.0011) level differences were statistically relevant. Macroscopically, Zenker’s necrosis was determined in the heart muscles of 17 lambs, and in the gluteal and chest muscles of 6 lambs. 7 lambs displayed necrosis in both their heart and in gluteal muscles. The samples were analyzed microscopically to reach similar findings: swollen homogeneous pink muscles, pycnotic nuclei, and hyperaemic and haemorrhagic blood vessels in gluteal, chest and heart muscles. Hyaline degeneration and Zenker's necrosis, dystrophic regions in necrotic areas, cc was detected as a severe disease in lambs at an early stage of life with advanced degeneration in different muscle tissues. Deficiency of fat-soluble vitamins was also detected in the sick animals. Control group lambs had higher levels of α tocopherol and retinol (p<0.001) compared to the sick lambs. .

scholarly journals The impact of vascular risk factors on the thickness and volume of the choroid in AMD patients

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Elżbieta Krytkowska ◽  
Aleksandra Grabowicz ◽  
Katarzyna Mozolewska-Piotrowska ◽  
Zofia Ulańczyk ◽  
Krzysztof Safranow ◽  
...  
Keyword(s):  
Risk Factors ◽  
Vascular Risk Factors ◽  
Age Related Macular Degeneration ◽  
Control Group ◽  
Vascular Risk ◽  
Average Volume ◽  
Central Ring ◽  
Age Related ◽  
The Impact ◽  
Wet Amd

AbstractDisturbances in choroidal microcirculation may lead to the onset and progression of age-related macular degeneration (AMD). We aimed to assess changes in the choroidal volume and thickness in the macular region in AMD eyes and to investigate whether coexisting vascular risk factors alter choroidal status. We enrolled 354 AMD patients (175 dry, 179 wet AMD) and 121 healthy controls. All participants underwent a complete ophthalmologic examination and assessment of choroidal thickness and volume. A multivariate analysis adjusted for age, sex, and smoking status revealed that wet AMD was an independent factor associated with higher average thickness of the central ring area (ATC) and average volume of the central ring area (AVC) and lower choroidal vascularity index (CVI) compared to controls (β =  + 0.18, p = 0.0007, β =  + 0.18, p = 0.0008, respectively) and to dry AMD (β =  + 0.17, p = 0.00003 for both ATC and AVC and β =  − 0.30 p < 0.0001 for CVI). ATC, AVC and average volume (AV) were lower in AMD patients with hypertension and ischaemic heart disease (IHD). The duration of hypertension was inversely correlated with ATC, AVC and AV (Rs =  − 0.13, p < 0.05; Rs =  − 0.12; p < 0.05, Rs =  − 0.12; p < 0.05, respectively) while IHD duration negatively correlated with AV (Rs =  − 0.15, p < 0.05). No such associations were observed in the control group. Our findings show that the choroidal vascular system in eyes with AMD is much more susceptible to damage in the presence than in the absence of systemic vascular disease.

scholarly journals Perilla Seed Oil Enhances Cognitive Function and Mental Health in Healthy Elderly Japanese Individuals by Enhancing the Biological Antioxidant Potential

Foods ◽  
2021 ◽  
Vol 10 (5) ◽  
pp. 1130
Author(s):  
Michio Hashimoto ◽  
Kentaro Matsuzaki ◽  
Shahdat Hossain ◽  
Tomoko Ito ◽  
Harumi Wakatsuki ◽  
...  
Keyword(s):  
Mental Health ◽  
Cognitive Function ◽  
Plasma Membranes ◽  
Seed Oil ◽  
Antioxidant Potential ◽  
Control Group ◽  
Healthy Elderly ◽  
Age Related ◽  
Elderly Japanese ◽  
Perilla Seed

Oxidative stress plays an important role in age-associated cognitive decline. We recently reported that dietary intake of perilla seed oil (PO), a rich source of α-linolenic acid (LNA, C18:3, ω-3), helps in maintaining good mental health in adults. This study aimed to investigate the impacts of dietary PO intake on cognitive functions and mental health in healthy, elderly Japanese individuals. Seventy-five healthy volunteers aged 64–84 years were randomly divided into two groups: a control group and a PO-administered group. At baseline and at 12 months of intervention, cognitive function, mental health condition, fatty acid profile of the red blood cell plasma membranes (RBC-PM), and serum biochemical parameters were evaluated. Results showed that serum biological antioxidant potential and LNA levels in the RBC-PM at 12 months after the trial were significantly higher in the PO group compared to the control group. Further, both the cognitive function measures, as evaluated by the Frontal Assessment Battery test and the apathy scores, tended to be improved after 12 months in the PO group. Our results demonstrate that dietary PO intake enhances the antioxidant potential and prevents the age-related cognitive and mental decline in healthy elderly individuals by enhancing the blood LNA levels.

scholarly journals Protein carbamylation is a hallmark of aging

2015 ◽  
Vol 113 (5) ◽  
pp. 1191-1196 ◽  
Author(s):  
Laëtitia Gorisse ◽  
Christine Pietrement ◽  
Vincent Vuiblet ◽  
Christian E. H. Schmelzer ◽  
Martin Köhler ◽  
...  
Keyword(s):  
Posttranslational Modifications ◽  
Type I Collagen ◽  
Accumulation Rate ◽  
Mammalian Species ◽  
Type I ◽  
Protective Mechanisms ◽  
Age Related ◽  
Tissue Damages ◽  
Carboxymethyl Lysine ◽  
Tissue Alterations

Aging is a progressive process determined by genetic and acquired factors. Among the latter are the chemical reactions referred to as nonenzymatic posttranslational modifications (NEPTMs), such as glycoxidation, which are responsible for protein molecular aging. Carbamylation is a more recently described NEPTM that is caused by the nonenzymatic binding of isocyanate derived from urea dissociation or myeloperoxidase-mediated catabolism of thiocyanate to free amino groups of proteins. This modification is considered an adverse reaction, because it induces alterations of protein and cell properties. It has been shown that carbamylated proteins increase in plasma and tissues during chronic kidney disease and are associated with deleterious clinical outcomes, but nothing is known to date about tissue protein carbamylation during aging. To address this issue, we evaluated homocitrulline rate, the most characteristic carbamylation-derived product (CDP), over time in skin of mammalian species with different life expectancies. Our results show that carbamylation occurs throughout the whole lifespan and leads to tissue accumulation of carbamylated proteins. Because of their remarkably long half-life, matrix proteins, like type I collagen and elastin, are preferential targets. Interestingly, the accumulation rate of CDPs is inversely correlated with longevity, suggesting the occurrence of still unidentified protective mechanisms. In addition, homocitrulline accumulates more intensely than carboxymethyl-lysine, one of the major advanced glycation end products, suggesting the prominent role of carbamylation over glycoxidation reactions in age-related tissue alterations. Thus, protein carbamylation may be considered a hallmark of aging in mammalian species that may significantly contribute in the structural and functional tissue damages encountered during aging.

Application of 25-National Eye Institute Visual Function Questionnaire in ophthalmological patients

2020 ◽  
Vol 2 (3) ◽  
pp. 1-8
Author(s):  
Luciano Mesquite Simmo ◽  
Carissa Fouad Ibrahim ◽  
Senice Alvarenga Rodrigues Silva ◽  
Thai Nunes Andrade ◽  
Doora Faleiros Leite ◽  
...  
Keyword(s):  
Visual Function ◽  
Peripheral Vision ◽  
Statistical Significance ◽  
Eye Diseases ◽  
Age Related Macular Degeneration ◽  
Control Group ◽  
Ischemic Optic Neuropathy ◽  
Age Related ◽  
Visual Function Questionnaire ◽  
The Impact

Objective: To compare the vision-targeted health related quality of life (HRQOL) between neuro-ophthalmological patients and other eye diseases by the National Eye Institute 25-Item Visual Function Questionnaire. Methods: Cross sectional study with a control group and patients with the following pathologies: primary open-angle glaucoma (POAG), diabetic retinopathy (DR), age-related macular degeneration (ARMD), non-arteritic ischemic optic neuropathy (NAION), intracranial hypertension (IH), optic neuritis (ON), ptosis and cataract. Results: All comparisons of the subscales scores among the control group and the patient groups were statistically significant (p<0.05) except for “ocular pain” (p=0.160), “social functioning” (p=0.052) and “peripheral vision” (p=0.112). The control group had the best scores across all dimensions of the NEI VFQ-25. Interestingly, the ARMD and cataract groups presented the best and worst total scores of NEI VFQ-25, respectively. The lowest subscales scores were found in the cataract, in the NAION/ON, and in the POAG groups. Finally, the comparison between the NAION/ON/IH patients and the other eye diseases did not show statistical significance in any subscale. Conclusion: The NEI VFQ-25 showed the impact of various eye conditions in vision-targeted HRQOL, and no difference was measured between neuro-ophthalmological patients and other eye diseases

Dog Models of Aging

2021 ◽  
Vol 10 (1) ◽  
Author(s):  
Audrey Ruple ◽  
Evan MacLean ◽  
Noah Snyder-Mackler ◽  
Kate E. Creevy ◽  
Daniel Promislow
Keyword(s):  
Large Scale ◽  
Mammalian Species ◽  
Annual Review ◽  
Publication Date ◽  
Companion Dogs ◽  
Age Related ◽  
Key Concepts ◽  
Similarities And Differences ◽  
Laboratory Models ◽  
Unique Potential

As the most phenotypically diverse mammalian species that shares human environments and access to sophisticated healthcare, domestic dogs have unique potential to inform our understanding of the determinants of aging. Here we outline key concepts in the study of aging and illustrate the value of research with dogs, which can improve dog health and support translational discoveries. We consider similarities and differences in aging and age-related diseases in dogs and humans and summarize key advances in our understanding of genetic and environmental risk factors for morbidity and mortality in dogs. We address health outcomes ranging from cancer to cognitive function and highlight emerging research opportunities from large-scale cohort studies in companion dogs. We conclude that studying aging in dogs could overcome many limitations of laboratory models, most notably, the ability to assess how aging-associated pathways influence aging in real-world environments similar to those experienced by humans. Expected final online publication date for the Annual Review of Animal Biosciences, Volume 10 is February 2022. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.

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