Mislocalization of SMN from the I-band and M-band in human skeletal myofibers in spinal muscular atrophy associates with primary structural alterations of the sarcomere

Article Subjects > Biomedicine Europe University of Atlantic > Research > Scientific Production UNSPECIFIED UNSPECIFIED metadata Berciano, María T. and Castillo-Iglesias, María S. and Val-Bernal, J. Fernando and Lafarga, Vanesa and Rodriguez-Rey, José C. and Lafarga, Miguel and Tapia Martínez, Olga mail UNSPECIFIED, UNSPECIFIED, UNSPECIFIED, UNSPECIFIED, UNSPECIFIED, UNSPECIFIED, olga.tapia@uneatlantico.es (2020) Mislocalization of SMN from the I-band and M-band in human skeletal myofibers in spinal muscular atrophy associates with primary structural alterations of the sarcomere. Cell and Tissue Research, 381 (3). pp. 461-478. ISSN 0302-766X

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Abstract

pinal muscular atrophy (SMA) is caused by a deletion or mutation of the survival motor neuron 1 (SMN1) gene. Reduced SMN levels lead to motor neuron degeneration and muscular atrophy. SMN protein localizes to the cytoplasm and Cajal bodies. Moreover, in myofibrils from Drosophila and mice, SMN is a sarcomeric protein localized to the Z-disc. Although SMN participates in multiple functions, including the biogenesis of spliceosomal small nuclear ribonucleoproteins, its role in the sarcomere is unclear. Here, we analyzed the sarcomeric organization of SMN in human control and type I SMA skeletal myofibers. In control sarcomeres, we demonstrate that human SMN is localized to the titin-positive M-band and actin-positive I-band, and to SMN-positive granules that flanked the Z-discs. Co-immunoprecipitation assays revealed that SMN interacts with the sarcomeric protein actin, α-actinin, titin, and profilin2. In the type I SMA muscle, SMN levels were reduced, and atrophic (denervated) and hypertrophic (nondenervated) myofibers coexisted. The hypertrophied myofibers, which are potential primary targets of SMN deficiency, exhibited sites of focal or segmental alterations of the actin cytoskeleton, where the SMN immunostaining pattern was altered. Moreover, SMN was relocalized to the Z-disc in overcontracted minisarcomeres from hypertrophic myofibers. We propose that SMN could have an integrating role in the molecular components of the sarcomere. Consequently, low SMN levels might impact the normal sarcomeric architecture, resulting in the disruption of myofibrils found in SMA muscle. This primary effect might be independent of the neurogenic myopathy produced by denervation and contribute to pathophysiology of the SMA myopathy.

Item Type: Article
Uncontrolled Keywords: Spinal muscular atrophy; SMN; Skeletal myofibers; Myofibrils; Sarcomere; M-band; I-band.
Subjects: Subjects > Biomedicine
Divisions: Europe University of Atlantic > Research > Scientific Production
SWORD Depositor: Users 0 not found.
Date Deposited: 01 Jun 2021 23:55
Last Modified: 30 Jun 2021 15:38
URI: https://repositorio.uneatlantico.es/id/eprint/112

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  • Mislocalization of SMN from the I-band and M-band in human skeletal myofibers in spinal muscular atrophy associates with primary structural alterations of the sarcomere. (deposited 01 Jun 2021 23:55) [Currently Displayed]

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  • Berciano, María T. and Castillo-Iglesias, María S. and Val-Bernal, J. Fernando and Lafarga, Vanesa and Rodriguez-Rey, José C. and Lafarga, Miguel and Tapia Martínez, Olga Mislocalization of SMN from the I-band and M-band in human skeletal myofibers in spinal muscular atrophy associates with primary structural alterations of the sarcomere. (deposited 01 Jun 2021 23:55) [Currently Displayed]

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Detection of Upper Limb Asymmetries in Athletes According to the Stage of the Season—A Longitudinal Study

Abstract: Sports injuries can affect the performance of athletes. For this reason, functional tests are used for injury assessment and prevention, analyzing physical or physiological imbalances and detecting asymmetries. The main aim of this study was to detect the asymmetries in the upper limbs (right and left arms) in athletes, using the OctoBalance Test (OB), depending on the stage of the season. Two hundred and fifty-two participants (age: 23.33 ± 8.96 years old; height: 178.63 ± 11.12 cm; body mass: 80.28 ± 17.61 kg; body mass index: 24.88 ± 4.58; sports experience: 12.52 ± 6.28 years), practicing different sports (rugby, athletics, football, swimming, handball, triathlon, basketball, hockey, badminton and volleyball), assessed with the OB in medial, superolateral, and inferolateral directions in both arms, in four moments of the season (May 2017, September 2017, February 2018 and May 2018). ANOVA test was used with repeated measures with a p ≤ 0.05, for the analysis of the different studied variances. Significant differences were found (p = 0.021) in the medial direction of the left arm, between the first (May 2017) and fourth stages (May 2018), with values of 71.02 ± 7.15 cm and 65.03 ± 7.66 cm. From the detection of asymmetries, using the OB to measure, in the medial, superolateral and inferolateral directions, mobility and balance can be assessed. In addition, it is possible to observe functional imbalances, as a risk factor for injury, in each of the stages into which the season is divided, which will help in the prevention of injuries and in the individualization of training.

Producción Científica

Álvaro Velarde-Sotres mail alvaro.velarde@uneatlantico.es, Antonio Bores-Cerezal mail antonio.bores@uneatlantico.es, Marcos Mecías-Calvo mail marcos.mecias@uneatlantico.es, Martín Barcala Furelos mail martin.barcala@uneatlantico.es, Silvia Aparicio Obregón mail silvia.aparicio@uneatlantico.es, Julio Calleja-González mail ,

Velarde-Sotres

Blockchain Interoperability: Towards a Sustainable Payment System

The highly fragmented blockchain and cryptocurrency ecosystem necessitates interoperability mechanisms as a requirement for blockchain-technology acceptance. The immediate implication of interchain interoperability is automatic swapping between cryptocurrencies. We performed a systematic review of the existing literature on Blockchain interoperability and atomic cross-chain transactions. We investigated different blockchain interoperability approaches, including industrial solutions, categorized them and identified the key mechanisms used, and list several example projects for each category. We focused on the atomic transactions between blockchain, a process also known as atomic swap. Furthermore, we studied recent implementations along with architectural approaches for atomic swap and deduced research issues and challenges in cross-chain interoperability and atomic swap. Atomic swap can instantly transfer tokens and significantly reduce the associated costs without using any centralized authority, and thus facilitates the development of a sustainable payment system for wider financial inclusion.

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Validity, Reliability and Reproducibility of OctoBalance Test as Tool to Measure the Upper Limb Compared to Modified-Upper Quarter Y-Balance Test

The articular evaluation of range of motion (ROM) is currently used to observe imbalance or limitations as possible risk factors or predispositions to suffer future injures. The main aim of this study is to verify the concurrent validity, reliability and reproducibility of the OctoBalance Test (OB) as a valid and reliable tool to measure articular ROM of the upper limb compared to the modified-Upper Quarter Y-Balance Test (mUQYBT). The twenty-five participants were male athletes. All of them were assessed with OB and mUQYBT in medial, superolateral, and inferolateral directions in both right and left arms with a three-minute break during these attempts. The process was repeated a second time with a week gap between measurements. Pearson correlation and linear logarithmic regression were used to examine the relationship between scores obtained with OB and mUQYBT. In order to verify the reliability, the intraclass correlation coefficient (ICC) was used (3.1). Concordance and reproducibility were assessed using Bland-Altman's graph. A perfect correlation and an almost linear logarithmic regression (R 2 = 0.97) were observed between both measurement systems, with values of 73.531 ± 21.226 cm in mUQYBT and 69.541 ± 16.330 cm in OB. The differences were minimal between week one and week two. The assessment with Bland's graph showed the concordance and reproducibility of scores, showing the dispersion and the upper and lower limits. OB is shown as valid in comparison to the other test as a reliable and reproducible tool for the assessment of the articular ROM in the upper limb, and it could be used for the evaluation of injuries.

Producción Científica

Álvaro Velarde-Sotres mail alvaro.velarde@uneatlantico.es, Antonio Bores-Cerezal mail antonio.bores@uneatlantico.es, Marcos Mecías-Calvo mail marcos.mecias@uneatlantico.es, Stefanía Carvajal-Altamiranda mail stefania.carvajal@uneatlantico.es, Julio Calleja-González mail ,

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Validity and Reliability of a New Device to Measure Type of Actions in Indoor Sports

The purpose of this study was to analyze the validity and the reliability of the intensity ranges, number of actions and changes of direction measured by a commercial inertial measurement unit. Eleven elite youth futsal players performed a circuit with different type of displacements as sprinting, running at low-medium intensity, standing up and changes of direction. Data recorded by the Overtraq system were compared with video-analyzer during the six trials of each player. Standard error mean, Intraclass Correlation Coeficient and Coefficient of variation, were calculated to analyze the reliability of the device, as well as the Root Mean Square Error and Confidence Interval with correlation of Pearson for its validity. The results reported good validity for three intensity ranges (R2>0.7) with high reliability (Intraclass Correlation Coeficient: 0.8–0.9), especially for high intensity actions (Intraclass Correlation Coeficient: 0.95, Coefficient of Variation: 3.06%). Furthermore, the validity for the number of different actions was almost perfect (96.3–100%), with only small differences regarding changes of activity (mean error: 2.0%). The Overtraq system can be considered as a valid and reliable technology for measuring and monitoring actions at different intensities and changes of direction in futsal, likewise common actions for other indoor sports.

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Effect of antimony in soils of an Sb mine on the photosynthetic pigments and antioxidant system of Dittrichia viscosa leaves

Antimony is a toxic element whose concentration in soil and water has been rising due to anthropogenic activities. This study focuses on its accumulation in leaves of Dittrichia viscosa growing in soils of an abandoned Sb mine, and the effect on oxidant/antioxidant systems and photosynthetic efficiency. The results showed leaves to have a high Sb accumulation capacity. The amount of total chlorophyll decreased depending on Sb concentration and of carotenoids increased slightly, with a consequent increase in carotenoid/chlorophyll ratio. Photosynthetic efficiency was unaffected. The amount of O .−2 rose, although there was no increase in cell membrane damage, with lipid peroxidation levels being similar to normal. This response may be due to considerable increases that were observed in total phenolics, PPO activity, and enzymatic antioxidant system. SOD, POX, and DHAR activities increased in response to increased Sb amounts in leaves. The ascorbate/glutathione cycle was also affected, with strong increases observed in all of its components, and consequent increases in total contents of the ascorbate and glutathione pools. However, the ratio between reduced and oxidized forms declined, reflecting an imbalance between the two, especially that between GSH and GSSG. Efficient detoxification of Sb may take place either through increases in phenolics, carotenoids, and components of the glutathione–ascorbate cycle or through the enzymatic antioxidant system. Since Dittrichia viscosa accumulates large amounts of Sb without suffering oxidative damage, it could be used for phytoremediation.

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