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Buntora Pasaribu, Noir Primadona Purba, Lantun Paradhita Dewanti, Daniel Pasaribu, Alexander Muhammad Akbar Khan, Syawaludin Alisyahbana Harahap, Mega Laksmini Syamsuddin, Yudi Nurul Ihsan, Sofyan Husein Siregar, Ibnu Faizal, Titin Herawati, Mohammad Irfan, Timbul Partogi Haposan Simorangkir, Tonni Agustiono Kurniawan
Symbiodiniaceae species is a dinoflagellate that plays a crucial role in maintaining the symbiotic mutualism of reef-building corals in the ocean. Reef-building corals, as hosts, provide the nutrition and habitat to endosymbiotic Symbiodiniaceae species and Symbiodiniaceae species transfer the fixed carbon to the corals for growth. Environmental stress is one of the factors impacting the physiology and metabolism of the corals-dinoflagellate association. The environmental stress triggers the metabolic changes in Symbiodiniaceae species resulting in an increase in the production of survival organelles related to storage components such as lipid droplets (LD)...
March 25, 2024: Plants (Basel, Switzerland)
#2
JOURNAL ARTICLE
Joshua Strom, Mathew Bull, Jochen Gohlke, Chandra Saripalli, Mei Methawasin, Michael Gotthardt, Henk Granzier
The heart has the ability to detect and respond to changes in mechanical load through a process called mechanotransduction. In this study, we focused on investigating the role of the cardiac-specific N2B element within the spring region of titin, which has been proposed to function as a mechanosensor. To assess its significance, we conducted experiments using N2B knockout (KO) mice and wildtype (WT) mice, subjecting them to three different conditions: 1) cardiac pressure overload induced by transverse aortic constriction (TAC), 2) volume overload caused by aortocaval fistula (ACF), and 3) exercise-induced hypertrophy through swimming...
April 9, 2024: Journal of Molecular and Cellular Cardiology
#3
JOURNAL ARTICLE
João Moura, Ana Paula Sousa, Raquel Samões, Paula Carneiro, Esmeralda Neves, Ana Martins Silva, Ernestina Santos
BACKGROUND: Anti-titin antibodies have been previously associated with thymoma-associated myasthenia gravis (MG) and a more clinically severe form of MG. While currently only serving as a disease biomarker, its possible utility as an indicator of underlying thymus malignancy may be of value in clinical practice. METHODS: Data was retrospectively collected and analyzed from 2013 to 2022 using an institutional record of MG patients. Anti-titin antibodies were assessed using Line Blot immunoassay...
February 29, 2024: Journal of Thoracic Disease
#4
Lynn George, BreAnna Cameron, Lauryn Torres-Hernandez, Virginia Montague, Karen Lewis, Heidi Smith, James Fox, Xueshui Guo, Robert G Kalb
Titin is the largest protein produced by living cells and its function as a molecular spring in striated muscle is well characterized (1, 2). Here we demonstrate that titin isoforms in the same size range as found in muscle are prominent neuronal proteins in both the central and peripheral nervous systems, including motor neurons in the spinal cord and brain. Within these neurons, titin localizes to the dense fibrillar component of the nucleolus, the site of ribosomal RNA biogenesis and modification, and a critical site of dysfunction in neurodegenerative disease (3-5)...
March 4, 2024: Research Square
#5
JOURNAL ARTICLE
Melissa Herwig, Merima Begovic, Heidi Budde, Simin Delalat, Saltanat Zhazykbayeva, Marcel Sieme, Luca Schneider, Kornelia Jaquet, Andreas Mügge, Ibrahim Akin, Ibrahim El-Battrawy, Jens Fielitz, Nazha Hamdani
Protein kinase D (PKD) enzymes play important roles in regulating myocardial contraction, hypertrophy, and remodeling. One of the proteins phosphorylated by PKD is titin, which is involved in myofilament function. In this study, we aimed to investigate the role of PKD in cardiomyocyte function under conditions of oxidative stress. To do this, we used mice with a cardiomyocyte-specific knock-out of Prkd1, which encodes PKD1 (Prkd1loxP/loxP ; αMHC-Cre ; PKD1 cKO), as well as wild type littermate controls (Prkd1loxP/loxP ; WT)...
February 28, 2024: International Journal of Molecular Sciences
#6
JOURNAL ARTICLE
Jianhao Li, Zihang Shi, Xiankang Fan, Lihui Du, Qiang Xia, Changyu Zhou, Yangying Sun, Baocai Xu, Daodong Pan
The effects of low-sodium salt mixture substitution on the sensory quality, protein oxidation, and hydrolysis of air-dried chicken and its molecular mechanisms were investigated based on tandem mass tagging (TMT) quantitative proteomics. The composite salt formulated with 1.6% KCl, 0.8% MgCl2 , and 5.6% NaCl was found to improve the freshness and texture quality scores. Low-sodium salt mixture substitution significantly decreased the carbonyl content (1.52 nmol/mg), surface hydrophobicity (102.58 μg), and dimeric tyrosine content (2...
February 28, 2024: Foods (Basel, Switzerland)
#7
Qilu Ye, Amy Henrickson, Borries Demeler, Vitor Hugo Balasco Serrão, Peter L Davies
Calpain-3 is an intracellular Ca 2+ -dependent cysteine protease abundant in skeletal muscle. Its physiological role in the sarcomere is thought to include removing damaged muscle proteins after exercise. Loss-of-function mutations in its single-copy gene cause a dystrophy of the limb-girdle muscles. These mutations, of which there are over 500 in humans, are spread all along this 94-kDa multi-domain protein that includes three 40+-residue sequences (NS, IS1, and IS2). The latter sequences are unique to this calpain isoform and are hypersensitive to proteolysis...
March 3, 2024: bioRxiv
#8
JOURNAL ARTICLE
Theo Arts, Aurore Lyon, Tammo Delhaas, Diederik W D Kuster, Jolanda van der Velden, Joost Lumens
Mutations in cardiac myosin-binding protein C (cMyBP-C) or titin may respectively lead to hypertrophic (HCM) or dilated (DCM) cardiomyopathies. The mechanisms leading to these phenotypes remain unclear because of the challenge of translating cellular abnormalities to whole-heart and system function. We developed and validated a novel computer model of calcium-contraction coupling incorporating the role of cMyBP-C and titin based on the key assumptions: 1) tension in the thick filament promotes cross-bridge attachment mechanochemically, 2) with increasing titin tension, more myosin heads are unlocked for attachment, and 3) cMyBP-C suppresses cross-bridge attachment...
March 8, 2024: Journal of Molecular and Cellular Cardiology
#9
JOURNAL ARTICLE
Amir Ghaffari Jolfayi, Erfan Kohansal, Serwa Ghasemi, Niloofar Naderi, Mahshid Hesami, MohammadHossein MozafaryBazargany, Maryam Hosseini Moghadam, Amir Farjam Fazelifar, Majid Maleki, Samira Kalayinia
The giant protein titin (TTN) is a sarcomeric protein that forms the myofibrillar backbone for the components of the contractile machinery which plays a crucial role in muscle disorders and cardiomyopathies. Diagnosing TTN pathogenic variants has important implications for patient management and genetic counseling. Genetic testing for TTN variants can help identify individuals at risk for developing cardiomyopathies, allowing for early intervention and personalized treatment strategies. Furthermore, identifying TTN variants can inform prognosis and guide therapeutic decisions...
March 4, 2024: Scientific Reports
#10
JOURNAL ARTICLE
Mantas Vaisvilas, David Petrosian, Loreta Bagdonaite, Vera Taluntiene, Viktorija Kralikiene, Neringa Daugelaviciene, Urte Neniskyte, Gintaras Kaubrys, Natasa Giedraitiene
Detection of neuronal antibodies for autoimmune encephalitis and paraneoplastic neurological syndromes relies on commercially available cell-based assays and lineblots. However, lineblots may reveal the presence of neuronal antibodies in patients with various non-autoimmune etiologies. Herein we describe patients with non-autoimmune etiologies (cohort B) and detectable neuronal antibodies and compare them to definite cases of autoimmune encephalitis (cohort A) for differences in clinical data. All patients positive for at least one neuronal antibody were retrospectively evaluated for autoimmune encephalitis and/or paraneoplastic neurological syndrome between 2016 and 2022...
March 4, 2024: Scientific Reports
#11
JOURNAL ARTICLE
Yoko Tanabe, Emi Kondo, Hiroyuki Sagayama, Kazuhiro Shimizu, Mikinobu Yasumatsu, Daisuke Nakamura, Naoto Fujii, Hideyuki Takahashi
PURPOSE: Curcumin ingestion can mitigate muscle damage, soreness, and inflammation following a laboratory-based eccentric exercise. Similar effects were observed in recent field-based studies wherein responses were evaluated after a soccer match. However, various potential confounding factors, such as matching opponent skill levels and daily training conditions, may have influenced the outcomes. In the present study, we investigated whether curcumin intake ameliorates changes in muscle damage markers following a soccer match while controlling for the potential confounding factors...
March 4, 2024: European Journal of Applied Physiology
#12
Alessia Perna, Luca Bosco, Fabiana Fattori, Eleonora Torchia, Anna Modoni, Manuela Papacci, Antonio Petrucci, Giorgio Tasca, Enzo Ricci, Enrico Silvio Bertini, Gabriella Silvestri
This report describes a novel TTN -related phenotype in two brothers, both affected by a childhood onset, very slowly progressive myopathy with cores, associated with dilated cardiomyopathy only in their late disease stages. Clinical exome sequencing documented in both siblings the heterozygous c.2089A>T and c.19426+2T>A variants in TTN. The c.2089A>T, classified in ClinVar as possibly pathogenic, introduces a premature stop codon in exon 14, whereas the c.19426+2T>A affects TTN alternative splicing...
February 8, 2024: Neuromuscular Disorders: NMD
#13
JOURNAL ARTICLE
Ana Töpf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bönnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan J Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
In digenic inheritance, pathogenic variants in two genes must be inherited together to cause disease. Only very few examples of digenic inheritance have been described in the neuromuscular disease field. Here we show that predicted deleterious variants in SRPK3, encoding the X-linked serine/argenine protein kinase 3, lead to a progressive early onset skeletal muscle myopathy only when in combination with heterozygous variants in the TTN gene. The co-occurrence of predicted deleterious SRPK3/TTN variants was not seen among 76,702 healthy male individuals, and statistical modeling strongly supported digenic inheritance as the best-fitting model...
March 1, 2024: Nature Genetics
#14
JOURNAL ARTICLE
Yeonjin Jeon, GunHee Lee, Hwangkyo Jeong, Gyungyub Gong, JiSun Kim, Kyunggon Kim, Jae Ho Jeong, Hee Jin Lee
BACKGROUND: Immunotherapy is applied to breast cancer to resolve the limitations of survival gain in existing treatment modalities. With immunotherapy, a tumor can be classified into immune-inflamed, excluded and desert based on the distribution of immune cells. We assessed the clinicopathological features, each subtype's prognostic value and differentially expressed proteins between immune subtypes. METHODS: Immune subtyping and proteomic analysis were performed on 56 breast cancer cases with neoadjuvant chemotherapy...
February 29, 2024: Clinical Proteomics
#15
JOURNAL ARTICLE
Ping Zhu, Jiarong Li, Feixiang Yan, Shahidul Islam, Xueying Lin, Xiaolei Xu
Allelic heterogeneity (AH) has been noted in truncational TTN (TTNtv)-associated dilated cardiomyopathy (DCM), i.e., mutations affecting A-band-encoding exons are pathogenic, but those affecting Z-disc-encoding exons are likely benign. The lack of an in vivo animal model that recapitulates AH hinders the deciphering of the underlying mechanism. Here, we explored zebrafish as a candidate vertebrate model by phenotyping a collection of zebrafish ttntv alleles. We noted that cardiac function and sarcomere structure are more severely disrupted in ttntv-A than in ttntv-Z homozygous embryos...
February 27, 2024: JCI Insight
#16
JOURNAL ARTICLE
Myrthe J van Dijk, Marissa J M Traets, Brigitte A van Oirschot, Titine J J Ruiter, Jonathan R A de Wilde, Jennifer Bos, Wouter W van Solinge, Margaret J Koziel, Judith J M Jans, Revati Wani, Eduard J van Beers, Richard van Wijk, Minke A E Rab
The most common forms of sickle cell disease (SCD) are sickle cell anemia (SCA; HbSS) and HbSC disease. In both, especially the more dense, dehydrated and adherent red blood cells (RBCs) with reduced deformability are prone to hemolysis and sickling, and thereby vaso-occlusion. Based on plasma amino acid profiling in SCD, a composition of 10 amino acids and derivatives (RCitNacQCarLKHVS; Axcella Therapeutics, USA), referred to as endogenous metabolic modulators (EMMs), was designed to target RBC metabolism...
February 2024: EJHaem
#17
JOURNAL ARTICLE
Roger W P Kissane, Graham N Askew
Skeletal muscle has a broad range of biomechanical functions, including power generation and energy absorption. These roles are underpinned by the force-velocity relationship, which comprises two distinct components: a concentric and an eccentric force-velocity relationship. The concentric component has been extensively studied across a wide range of muscles with different muscle properties. However, to date, little progress has been made in accurately characterising the eccentric force-velocity relationship in mammalian muscle with varying muscle properties...
February 24, 2024: Journal of Physiology
#18
JOURNAL ARTICLE
Liang Chen, Jun Liu, Hosna Rastegarpouyani, Paul M L Janssen, Jose R Pinto, Kenneth A Taylor
Heart muscle has the unique property that it can never rest; all cardiomyocytes contract with each heartbeat which requires a complex control mechanism to regulate cardiac output to physiological requirements. Changes in calcium concentration regulate the thin filament activation. A separate but linked mechanism regulates the thick filament activation, which frees sufficient myosin heads to bind the thin filament, thereby producing the required force. Thick filaments contain additional nonmyosin proteins, myosin-binding protein C and titin, the latter being the protein that transmits applied tension to the thick filament...
February 27, 2024: Proceedings of the National Academy of Sciences of the United States of America
#19
REVIEW
Ger Stienen, Carlo Reggiani
The European Society for Muscle Research (ESMR) started in 1971 as "European Muscle Club" in a joint initiative of Marcus Schaub, Eduard Jenny and Rudolf Billeter (Zurich), Caspar Rüegg (Heidelberg), Jean Légér (Montpellier), Bernard Swynghedauw (Paris), George Maréchal (Brussels), Gabriel Hamoir (Liège), and Endre Biró (Budapest). Since 1972, local organizers took care of muscle conferences held yearly in different European countries and in Israel in 1987. One of the goals was to establish contacts and collaborations between scientists on both sides of the Iron Curtain...
February 14, 2024: Journal of Muscle Research and Cell Motility
#20
Timothy R Fallon, Vikram V Shende, Igor H Wierzbicki, Robert P Auber, David J Gonzalez, Jennifer H Wisecaver, Bradley S Moore
Prymnesium parvum are harmful haptophyte algae that cause massive environmental fish-kills. Their polyketide polyether toxins, the prymnesins , are amongst the largest nonpolymeric compounds in nature, alongside structurally-related health-impacting "red-tide" polyether toxins whose biosynthetic origins have been an enigma for over 40 years. Here we report the 'PKZILLAs', massive P. parvum polyketide synthase (PKS) genes, whose existence and challenging genomic structure evaded prior detection. PKZILLA-1 and -2 encode giant protein products of 4...
January 31, 2024: bioRxiv
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