scholarly journals Analysis of the Serum Peptidomics Profile for Cats With Sarcomeric Gene Mutation and Hypertrophic Cardiomyopathy

2021 ◽  
Vol 8 ◽  
Author(s):  
Pratch Sukumolanan ◽  
Narumon Phanakrop ◽  
Siriwan Thaisakun ◽  
Sittiruk Roytrakul ◽  
Soontaree Petchdee
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Phenotypic Variability ◽  
Gene Mutations ◽  
Total Serum ◽  
Supporting Evidence ◽  
Ph Domain ◽  
Serum Samples ◽  
Forkhead Box ◽  
Peptide Expression ◽  
Sarcomeric Gene

Background: Hypertrophic cardiomyopathy (HCM) has a complex phenotype that is partly explained by genetic variants related to this disease. The serum peptidome profile is a promising approach to define clinically relevant biomarkers. This study aimed to classify peptide patterns in serum samples between cats with sarcomeric gene mutations and normal cats.Materials and Methods: In the total serum samples from 31 cats, several essential proteins were identified by peptidomics analysis. The 5,946 peptides were differentially expressed in cats with sarcomeric gene mutations compared with cats without mutations.Results: Our results demonstrated characteristic protein expression in control cats, Maine Coon cats, and Maine Coon cats with gene mutations. In cats with gene mutations, peptide expression profiling showed an association with three peptides, Cytochrome 3a132 (CYP3A132), forkhead box O1 (FOXO1), and ArfGAP, with GTPase domains, ankyrin repeats, and PH domain 2 (AGAP2).Discussion: The serum peptidome of cats with mutations might provide supporting evidence for the dysregulation of metabolic and structural proteins. Genetic and peptidomics investigations may help elucidate the phenotypic variability of HCM and treatment targets to reduce morbidity and mortality of HCM in cats.

scholarly journals Prevalence and Distribution of Sarcomeric Gene Mutations in Japanese Patients With Familial Hypertrophic Cardiomyopathy

2012 ◽  
Vol 76 (2) ◽  
pp. 453-461 ◽  
Author(s):  
Haruna Otsuka ◽  
Takuro Arimura ◽  
Tadaaki Abe ◽  
Hiroya Kawai ◽  
Yoshiyasu Aizawa ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Gene Mutations ◽  
Japanese Patients ◽  
Familial Hypertrophic Cardiomyopathy ◽  
Sarcomeric Gene

scholarly journals Perturbed Length-Dependent Activation in Human Hypertrophic Cardiomyopathy With Missense Sarcomeric Gene Mutations

2013 ◽  
Vol 112 (11) ◽  
pp. 1491-1505 ◽  
Author(s):  
Vasco Sequeira ◽  
Paul J.M. Wijnker ◽  
Louise L.A.M. Nijenkamp ◽  
Diederik W.D. Kuster ◽  
Aref Najafi ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Gene Mutations ◽  
Sarcomeric Gene ◽  
Length Dependent Activation

scholarly journals Novel FHL1 mutation variant identified in a patient with nonobstructive hypertrophic cardiomyopathy and myopathy – a case report

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Adrian Giucă ◽  
Cristina Mitu ◽  
Bogdan Ovidiu Popescu ◽  
Alexandra Eugenia Bastian ◽  
Răzvan Capşa ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Case Report ◽  
Hypertrophic Cardiomyopathy ◽  
Novel Mutation ◽  
Genetic Disorder ◽  
Neuromuscular Disorders ◽  
Gene Mutations ◽  
Pathogenic Mutation ◽  
Neuromuscular Disorder ◽  
Sarcomeric Gene

Abstract Background Hypertrophic cardiomyopathy (HCM) is a genetic disorder mostly caused by sarcomeric gene mutations, but almost 10% of cases are attributed to inherited metabolic and neuromuscular disorders. First described in 2008 in an American-Italian family with scapuloperoneal myopathy, FHL1 gene encodes four-and-a-half LIM domains 1 proteins which are involved in sarcomere formation, assembly and biomechanical stress sensing both in cardiac and skeletal muscle, and its mutations are responsible for a large spectrum of neuromuscular disorders (mostly myopathies) and cardiac disease, represented by HCM, either isolated, or in conjunction with neurologic and skeletal muscle impairment. We thereby report a novel mutation variant in FHL1 structure, associated with HCM and type 6 Emery-Dreifuss muscular dystrophy (EDMD). Case presentation We describe the case of a 40 year old male patient, who was referred to our department for evaluation in the setting of NYHA II heart failure symptoms and was found to have HCM. The elevated muscular enzymes raised the suspicion of a neuromuscular disease. Rigid low spine and wasting of deltoidus, supraspinatus, infraspinatus and calf muscles were described by the neurological examination. Electromyography and muscle biopsy found evidence of chronic myopathy. Diagnosis work-up was completed by next-generation sequencing genetic testing which found a likely pathogenic mutation in the FHL1 gene (c.157-1G > A, hemizygous) involved in the development of X-linked EDMD type 6. Conclusion This case report highlights the importance of multimodality diagnostic approach in a patient with a neuromuscular disorder and associated hypertrophic cardiomyopathy by identifying a novel mutation variant in FHL1 gene. Raising awareness of non-sarcomeric gene mutations which can lead to HCM is fundamental, because of diagnostic and clinical risk stratification challenges.

scholarly journals Natural Infection of Dairy Cows with Bovine Leukemia Virus Affects Immunoglobulin Levels in Saliva and Serum but Not Milk

Pathogens ◽  
2021 ◽  
Vol 10 (7) ◽  
pp. 907
Author(s):  
Monika Dziuba ◽  
Vickie J. Ruggiero ◽  
Catherine Wilson ◽  
Paul C. Bartlett ◽  
Paul M. Coussens
Keyword(s):  
Pilot Study ◽  
Dairy Cows ◽  
Bovine Leukemia Virus ◽  
Leukemia Virus ◽  
Natural Infection ◽  
Total Serum ◽  
Serum Samples ◽  
Retroviral Infection ◽  
Serum Iga ◽  
The Impact

Bovine leukemia virus (BLV) is a retroviral infection that disrupts the immune function of infected animals. It is widespread among U.S. dairy cattle. In this pilot study, the average total IgA and IgM concentrations in milk, saliva, and serum samples from BLV ELISA-positive (ELISA+) dairy cows were compared against samples from BLV ELISA-negative (ELISA−) cows using the Kruskal–Wallis test (with ties). The results from ELISA+ cows were also stratified by lymphocyte count (LC) and proviral load (PVL). In milk and saliva from ELISA+ cows, the average total IgA and IgM concentrations were decreased compared to ELISA− cows, although this was only statistically significant for saliva IgM in cows with low PVL (p = 0.0424). Numerically, the average total IgA concentrations were 33.6% lower in milk and 23.7% lower in saliva, and the average total IgM concentrations were 42.4% lower in milk and 15.5% lower in saliva. No significant differences were observed in the total serum IgA concentrations, regardless of PVL and LC. The total serum IgM from ELISA+ cows was significantly decreased (p = 0.0223), with the largest decreases occurring in the highest PVL and LC subgroups. This pilot study is a first step in investigating the impact of BLV on mucosal immunity and will require further exploration in each of the various stages of disease progression.

scholarly journals Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy

2005 ◽  
Vol 83 (10) ◽  
pp. 837-837 ◽  
Author(s):  
Andreas Perrot ◽  
Hajo Schmidt-Traub ◽  
Bernard Hoffmann ◽  
Matthias Prager ◽  
Nana Bit-Avragim ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Myosin Heavy Chain ◽  
Heavy Chain ◽  
Gene Mutations ◽  
Chain Gene ◽  
Heavy Chain Gene ◽  
Myosin Heavy Chain Gene
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