Phylogenetic diversity of troponin subunit-C amino acid composition

Digitalitzat per Artypla

TTN genotype is associated with fascicle length and marathon running performance.

Titin provides a molecular blueprint for muscle sarcomere assembly and sarcomere length can vary according to titin isoform expression. If variations in sarcomere length influence muscle fascicle length, this may provide an advantage for running performance. Thus the aim of this study was to investigate if the titin (TTN) rs10497520 polymorphism was associated with muscle fascicle length in recreationally active men (RA; n = 137) and marathon personal best time in male marathon runners (MR; n = 141). Fascicle length of the vastus lateralis was assessed in vivo using B-mode ultrasonography at 50% of muscle length in RA. All participants provided either a whole blood, saliva or buccal cell sample, from which DNA was isolated and genotyped using real-time polymerase chain reaction. Vastus lateralis fascicle length was 10.4% longer in CC homozygotes, those carrying two copies of the C-allele, than CT heterozygotes (p = 0.003) in RA. In the absence of any TT homozygotes, reflective of the low T-allele frequency within Caucasian populations, it is unclear if fascicle length for this group would have been smaller still. No differences in genotype frequency between the RA and MR groups were observed (p = 0.500), although within the MR group the T-allele carriers demonstrated marathon personal best times 2 min 25 s faster than CC homozygotes (p = 0.020). These results suggest that the T-allele at rs10497520 in the TTN gene is associated with shorter skeletal muscle fascicle length and conveys an advantage for marathon running performance in habitually trained men. This article is protected by copyright. All rights reserved

Attitudes of Sinjari Yezidis in Iraq Regarding the Rape of Yezidi Women and the Babies Born from Rape During the ISIS Genocide

This thesis evaluated the attitude of acceptance among Sinjari Yezidis toward Yezidi women who were captured and raped by ISIS captors. In addition, attitudes of acceptance were also studied on behalf of the children born due to rape. These attitudes were recorded by a 25-question attitudinal survey and then analyzed on a question by question bases. The outcome of the following study showed an overwhelming acceptance of the women but a mixed acceptance of their children. Based on the study findings, religious beliefs may be the best way to understand the level of acceptance the Yezidi community has toward the women who were raped and their children

Multiple species comparison of cardiac troponin T and dystrophin: unravelling the DNA behind dilated cardiomyopathy

Animals have frequently been used as models for human disorders and mutations. Following advances in genetic testing and treatment options, and the decreasing cost of these technologies in the clinic, mutations in both companion and commercial animals are now being investigated. A recent review highlighted the genes associated with both human and non-human dilated cardiomyopathy. Cardiac troponin T and dystrophin were observed to be associated with both human and turkey (troponin T) and canine (dystrophin) dilated cardiomyopathies. This review gives an overview of the work carried out in cardiac troponin T and dystrophin to date in both human and animal dilated cardiomyopathy

Scanning Electron Microscopy of Muscle Myofibrils After High Pressure Freezing and Freeze-Substitution-Staining

A novel approach to study the three dimensional ultrastructure of organelles and cells by means of scanning electron microscopy is described. Muscle myofibrils have been used in the development of the techniques since their structure is well characterized using conventional electron microscopic methods. Myofibrils in rigor buffer (with no cryo-protectants or pressure sealants) were frozen at high pressure (2300 bar) within specially designed chambers. The frozen specimens were then freeze-substituted-stained with methanol containing tungsten and iron salts and finally critical point dried. These methods allowed scanning electron microscopic observations of the organization of individual filaments within whole myofibrils over several sarcomeres. Images obtained showed excellent structural preservation with three dimensional information which is not available with other electron microscopic techniques. Success in these approaches was ascribed to (a) rapid and uniform freezing at high pressure without ice segregation patterns, (b) uniform electro-conductivity of the specimen closely attached to the polished carbon piston/carrier, and (c) good electron emission (secondary and back-scattered) from the metal incorporated into the myofibril structure without additional coating

Exon-phase symmetry and intrinsic structural disorder promote modular evolution in the human genome

A key signature of module exchange in the genome is phase symmetry of exons, suggestive of exon shuffling events that occurred without disrupting translation reading frame. At the protein level, intrinsic structural disorder may be another key element because disordered regions often serve as functional elements that can be effectively integrated into a protein structure. Therefore, we asked whether exon-phase symmetry in the human genome and structural disorder in the human proteome are connected, signalling such evolutionary mechanisms in the assembly of multi-exon genes. We found an elevated level of structural disorder of regions encoded by symmetric exons and a preferred symmetry of exons encoding for mostly disordered regions (>70% predicted disorder). Alternatively spliced symmetric exons tend to correspond to the most disordered regions. The genes of mostly disordered proteins (>70% predicted disorder) tend to be assembled from symmetric exons, which often arise by internal tandem duplications. Preponderance of certain types of short motifs (e.g. SH3-binding motif) and domains (e.g. high-mobility group domains) suggests that certain disordered modules have been particularly effective in exon-shuffling events. Our observations suggest that structural disorder has facilitated modular assembly of complex genes in evolution of the human genome. © 2013 The Author(s)

Titin Diversity—Alternative Splicing Gone Wild

Titin is an extremely large protein found in highest concentrations in heart and skeletal muscle. The single mammalian gene is expressed in multiple isoforms as a result of alternative splicing. Although titin isoform expression is controlled developmentally and in a tissue specific manner, the vast number of potential splicing pathways far exceeds those described in any other alternatively spliced gene. Over 1 million human splice pathways for a single individual can be potentially derived from the PEVK region alone. A new splicing pattern for the human cardiac N2BA isoform type has been found in which the PEVK region includes only the N2B type exons. The alterations in splicing and titin isoform expression in human heart disease provide impetus for future detailed study of the splicing mechanisms for this giant protein

3D Mapping with an Unmanned Aerial Vehicle

Missionary aviation pilots often have to land their planes on remote airstrips that might be unsafe due to runway obstructions such as encroaching vegetation or large objects that were unknowingly placed on the runway. The Falcon Unmanned Aerial Vehicle (UAV) team is partnering with ITEC to develop an imaging system using a UAV to scan these airstrips to detect these obstructions. ITEC was founded by Steve Saint, the son of martyred missionary Nate Saint, to develop technologies to aid missionaries in their work. This video highlights the work of the Falcon UAV team and the basic terms and definitions for understanding the work of the team. The Falcon UAV team focuses primarily on the use of automated 3D mapping and photogrammetry by drones to help identify obstructions to pilots landing on remote airstrips. In this video, we will explore 3D mapping and compare different options for drones to purchase and software to use in the process of mapping information.https://mosaic.messiah.edu/engr2020/1007/thumbnail.jp

Patient-Reported Outcomes of Primary Total Ankle Arthroplasty in Patients Aged \u3c50 Years

Background: Compared to more prevalent arthritic conditions, ankle arthritis is complicated by an earlier age of onset. Recently published data demonstrates excellent survivorship and complication rates in short-/midterm follow-up of younger patients who received a primary total ankle arthroplasty (TAA). Additionally, older TAA patients display comparable reported outcomes relative to hip/knee arthroplasty. However, there remains a paucity of literature surrounding the reported outcomes of younger patients undergoing TAA. Thus, our aim was to assess the reported outcomes of individuals aged \u3c50 years receiving a primary TAA. Methods: A retrospective cohort analysis of adult patients \u3c50 years who received a primary total ankle replacement was conducted. Patient demographics, diagnosis, treatment, and outcome characteristics were recorded from a chart review of 41 patients with at least 1 year of postoperative clinical follow-up. Postoperative reported outcomes were obtained via telephone interviews. Primary outcomes that were measured included emotional and physical health, activity limitation, ambulation, and global health. Measures used included the 36-Item Short Form Health Survey (SF-36), Patient-Reported Outcomes Measurement Information System (PROMIS) Global Health, and Sickness Impact Profile Ambulation. The functional outcomes in our study sample were compared with age- and gender-matched norms from a general US population, and 95% CIs were calculated for each functional outcome mean. Student t test was used for continuous variables, and χ2 analysis was used for categorical variables. Results: Thirty-one of 41 eligible patients were reached for interview. The average age at surgery was 39.7 years. Clinical and radiographic follow-up was a mean of 51.6 months and 31.2 months following TAA, respectively. General health as measured with the SF-36 was not significantly different from age-/gender-matched norms. Eighty-seven percent of patients would choose to have a TAA again. Although 58% reported being limited in vigorous activities, 61% were able to ambulate frequently for long periods of time. On average, the patients did not report ongoing pain, and only 16% reported fatigue that hindered activities. Eighty-one percent reported returning to full employment and performing their duties without difficulty, and 84% reported they resumed all normal social activities. Primary implant survivorship was 93%. Conclusion: Despite a younger age and potentially increased demands, patients aged \u3c50 years undergoing primary TAA are generally satisfied with their index procedure at a mean follow-up of nearly 5 years. Our findings of positive outcomes on their health and well-being may improve surgeon insight for TAA as an alternative treatment for younger individuals with end-stage ankle arthritis. Level of Evidence: Level IV, case series