| Genetic analysis revealed a novel small in-frame deletion within the DES gene, p.Q113_L115del, affecting the alpha-helical rod domain. Functional study revealed an abnormal cytoplasmic accumulation of desmin and a degraded sarcomeric structure. Further results suggest that DES:p.Q113_L115del is a pathogenic mutation associated with dilated cardiomyopathy with prominent left ventricular hypertrabeculation. | Noncompaction cardiomyopathy is caused by a novel in-frame desmin (DES) deletion mutation within the 1A coiled-coil rod segment leading to a severe filament assembly defect.
Marakhonov AV, Brodehl A, Myasnikov RP, Sparber PA, Kiseleva AV, Kulikova OV, Meshkov AN, Zharikova AA, Koretsky SN, Kharlap MS, Stanasiuk C, Mershina EA, Sinitsyn VE, Shevchenko AO, Mozheyko NP, Drapkina OM, Boytsov SA, Milting H, Skoblov MY. | 04/4/2020 |
| These data suggest that desmin forms seeding-competent amyloid that is toxic to myofibers. | Desmin forms toxic, seeding-competent amyloid aggregates that persist in muscle fibers.
Kedia N, Arhzaouy K, Pittman SK, Sun Y, Batchelor M, Weihl CC, Bieschke J., Free PMC Article | 03/28/2020 |
| An increase in the expression of ubiquitin and desmin mRNA may be a protective feature against unfavorable cell remodeling. | Patterns of desmin expression in idiopathic dilated cardiomyopathy are related to the desmin mRNA and ubiquitin expression.
Pawlak A, Rejmak-Kozicka E, Gil KE, Ziemba A, Kaczmarek L, Gil RJ. | 02/22/2020 |
| Study found that mRNA and protein expression of tesmin were increased in nonsmall cell lung cancer (NSCLC) tumors and cell lines. Higher tesmin expression was also associated with shorter overall survival. This expression was found in both the cytoplasm and the nucleus. However, nuclear expression of tesmin was not related to the clinicopathological data of patients. | Expression of tesmin (MTL5) in non‑small cell lung cancer: A preliminary study.
Grzegrzolka J, Gomulkiewicz A, Olbromski M, Glatzel-Plucinska N, Piotrowska A, Ratajczak-Wielgomas K, Rzechonek A, Podhorska-Okolow M, Krawczuk Z, Dziegiel P. | 12/28/2019 |
| The coexpression of ACTA2 and DES was related to the expression of MMP2, and positively correlated with lymph node metastasis. Activation of pancreatic stellate cells may promote the expression of MMP2 and enhance the invasion and metastasis of pancreatic carcinoma. | Pancreatic Stellate Cells Activation and Matrix Metallopeptidase 2 Expression Correlate With Lymph Node Metastasis in Pancreatic Carcinoma.
Li Y, Song T, Chen Z, Wang Y, Zhang J, Wang X. | 10/19/2019 |
| In cardiac extracts from human ischemic and nonischemic heart failure, desmin preamyloid oligomers (PAOs) accumulate in myocardial cells. A 2-fold increase of both desmin PAOs and desmin cleavage was also observed in dilated (nonischemic) cardiomyopathy compared with nonfailing human hearts. Ser31 phosphorylated desmin is a likely candidate seed for the nucleation process leading to cardiac PAOs deposition. | Desmin Phosphorylation Triggers Preamyloid Oligomers Formation and Myocyte Dysfunction in Acquired Heart Failure.
Rainer PP, Dong P, Sorge M, Fert-Bober J, Holewinski RJ, Wang Y, Foss CA, An SS, Baracca A, Solaini G, Glabe CG, Pomper MG, Van Eyk JE, Tomaselli GF, Paolocci N, Agnetti G., Free PMC Article | 09/21/2019 |
| The DES-p.Glu401Asp mutation causes predominant inherited left ventricular arrhythmogenic cardiomyopathy/dysplasia with a high incidence of adverse clinical events in the absence of skeletal myopathy or conduction system disorders. | Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia.
Bermúdez-Jiménez FJ, Carriel V, Brodehl A, Alaminos M, Campos A, Schirmer I, Milting H, Abril BÁ, Álvarez M, López-Fernández S, García-Giustiniani D, Monserrat L, Tercedor L, Jiménez-Jáimez J. | 05/11/2019 |
| There was no association of any of the rs1058261 genotypes with hypertension at the age of 50. At age of 60, after adjustment for gender and body mass index, subjects with the genotype CC had higher incidence of cerebrovascular events compared with the T allele (1.6%) (p = 0.046). In addition, those with CC genotype had a higher incidence of all combined cardiovascular events compared with subjects with the T allele. | Association of Desmin Gene Variant rs1058261 with Cardiovascular Disease, the TAMRISK Study.
Piesanen J, Kunnas T, Nikkari ST. | 01/5/2019 |
| A novel mutation (c.679 C>T /p.R227C) in exon 3 of DES was identified and cosegregated with the affected members of a Chinese family with isolated Dilated cardiomyopathy (DCM) phenotypes (left ventricle and left atrial diameters). | Exome Sequencing Identifies a Novel DES Mutation (R227C) in a Chinese Dilated Cardiomyopathy Family.
Yu R, Liu L, Chen C, Shen JM. | 08/18/2018 |
| Desmin, Glial Fibrillary Acidic Protein, Vimentin, and Peripherin are type III intermediate filaments that have roles in health and disease [review] | Type III Intermediate Filaments Desmin, Glial Fibrillary Acidic Protein (GFAP), Vimentin, and Peripherin.
Hol EM, Capetanaki Y., Free PMC Article | 07/28/2018 |
| Phenotypic expression of a novel desmin gene mutation: hypertrophic cardiomyopathy followed by systemic myopathy. | Phenotypic expression of a novel desmin gene mutation: hypertrophic cardiomyopathy followed by systemic myopathy.
Harada H, Hayashi T, Nishi H, Kusaba K, Koga Y, Koga Y, Nonaka I, Kimura A. | 07/28/2018 |
| Using a combination of co-sedimentation centrifugation, viscometric assays and electron microscopy of negatively stained filaments to analyse the in vitro assembly of desmin filaments, this study shows that the binding of CRYAB to desmin is subject to its assembly status, to the subunit organization within filaments formed and to the integrity of the C-terminal tail domain of desmin. | αB-crystallin is a sensor for assembly intermediates and for the subunit topology of desmin intermediate filaments.
Sharma S, Conover GM, Elliott JL, Der Perng M, Herrmann H, Quinlan RA., Free PMC Article | 03/24/2018 |
| Targeted sequencing revealed trigenic mutations: c.700G>A/p.E234K in DES, c.2966G>A/p.R989H in MYPN, and c.5918G>C/p.R1973P in CACNA1C in a family of hypertrophic cardiomyopathy with early repolarization and short QT syndrome. | Novel trigenic CACNA1C/DES/MYPN mutations in a family of hypertrophic cardiomyopathy with early repolarization and short QT syndrome.
Chen Y, Barajas-Martinez H, Zhu D, Wang X, Chen C, Zhuang R, Shi J, Wu X, Tao Y, Jin W, Wang X, Hu D., Free PMC Article | 11/4/2017 |
| demonstrate that the expression of mutant desmin causes disruption of the extrasarcomeric desmin cytoskeleton and extensive mitochondrial abnormalities regarding subcellular distribution, number and shape | Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue.
Winter L, Wittig I, Peeva V, Eggers B, Heidler J, Chevessier F, Kley RA, Barkovits K, Strecker V, Berwanger C, Herrmann H, Marcus K, Kornblum C, Kunz WS, Schröder R, Clemen CS., Free PMC Article | 09/23/2017 |
| Mutation in the Core Structure of Desmin Intermediate Filaments Affects Myoblast Elasticity | Mutation in the Core Structure of Desmin Intermediate Filaments Affects Myoblast Elasticity.
Even C, Abramovici G, Delort F, Rigato AF, Bailleux V, de Sousa Moreira A, Vicart P, Rico F, Batonnet-Pichon S, Briki F., Free PMC Article | 09/2/2017 |
| Data show that the filament elongation of both desmin and keratin K8/K18 proceeds very similar to that of vimentin. | In Vitro Assembly Kinetics of Cytoplasmic Intermediate Filaments: A Correlative Monte Carlo Simulation Study.
Mücke N, Winheim S, Merlitz H, Buchholz J, Langowski J, Herrmann H., Free PMC Article | 07/29/2017 |
| Cdk1-induced desmin phosphorylation is required for efficient separation of desmin-IFs and generally detected in muscular mitotic cells in vivo. | Desmin phosphorylation by Cdk1 is required for efficient separation of desmin intermediate filaments in mitosis and detected in murine embryonic/newborn muscle and human rhabdomyosarcoma tissues.
Makihara H, Inaba H, Enomoto A, Tanaka H, Tomono Y, Ushida K, Goto M, Kurita K, Nishida Y, Kasahara K, Goto H, Inagaki M. | 06/3/2017 |
| Desmin, Lamin A/C, MMP9, and histone H4 were upregulated in the placental villi of women experiencing early pregnancy loss. | Proteomics study reveals that the dysregulation of focal adhesion and ribosome contribute to early pregnancy loss.
Xin L, Xu B, Ma L, Hou Q, Ye M, Meng S, Ding X, Ge W., Free PMC Article | 04/22/2017 |
| Ile367Phe, Pro419Ser, and Arg415Glu mutations were associated with desminopathy causing cardiomyopathy in 4 families studied. | Phenotypic Patterns of Cardiomyopathy Caused by Mutations in the Desmin Gene. A Clinical and Genetic Study in Two Inherited Heart Disease Units.
Ripoll-Vera T, Zorio E, Gámez JM, Molina P, Govea N, Crémer D. | 12/17/2016 |
| Increasing desmin abnormalities were correlated with diastolic dysfunction progression. | Changes in desmin expression in patients with cardiac diastolic dysfunction and preserved or reduced ejection fraction.
Pawlak A, Gil RJ, Nasierowska-Guttmejer AM, Kasprzak JD. | 01/23/2016 |
| expression level of mutant versus wild-type desmin in mouse model as well as in skeletal muscle specimens derived from human R350P desminopathies; findings demonstrate missense-mutant desmin inflicts changes of the subcellular localization and turnover of desmin itself and of direct desmin-binding partners | The toxic effect of R350P mutant desmin in striated muscle of man and mouse.
Clemen CS, Stöckigt F, Strucksberg KH, Chevessier F, Winter L, Schütz J, Bauer R, Thorweihe JM, Wenzel D, Schlötzer-Schrehardt U, Rasche V, Krsmanovic P, Katus HA, Rottbauer W, Just S, Müller OJ, Friedrich O, Meyer R, Herrmann H, Schrickel JW, Schröder R., Free PMC Article | 09/26/2015 |
| Results propose that the mutations affect desmin structure and cause its aberrant folding and subsequent aggregation, triggering disruption of myofibrils organization. | Two desmin gene mutations associated with myofibrillar myopathies in Polish families.
Fichna JP, Karolczak J, Potulska-Chromik A, Miszta P, Berdynski M, Sikorska A, Filipek S, Redowicz MJ, Kaminska A, Zekanowski C., Free PMC Article | 08/29/2015 |
| identified disruption of the desmin system in gastrocnemius myofibers as an index of the myopathy and limitation of muscle function in patients with peripheral artery disease. | Abnormal accumulation of desmin in gastrocnemius myofibers of patients with peripheral artery disease: associations with altered myofiber morphology and density, mitochondrial dysfunction and impaired limb function.
Koutakis P, Miserlis D, Myers SA, Kim JK, Zhu Z, Papoutsi E, Swanson SA, Haynatzki G, Ha DM, Carpenter LA, McComb RD, Johanning JM, Casale GP, Pipinos II., Free PMC Article | 06/6/2015 |
| The desmin intermediate filament network plays a major role in striated muscle development and maintenance by integrating and coordinating most cellular components necessary for proper mechanochemical signaling, organelle cross-talk, energy production and trafficking processes required for proper tissue homeostasis. [Review] | Desmin related disease: a matter of cell survival failure.
Capetanaki Y, Papathanasiou S, Diokmetzidou A, Vatsellas G, Tsikitis M., Free PMC Article | 05/16/2015 |
| Data suggest that loss of the desmin-p. A120D filament localization at the intercalated disk indicates its clinical arrhythmogenic potential. | The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death.
Brodehl A, Dieding M, Klauke B, Dec E, Madaan S, Huang T, Gargus J, Fatima A, Saric T, Cakar H, Walhorn V, Tönsing K, Skrzipczyk T, Cebulla R, Gerdes D, Schulz U, Gummert J, Svendsen JH, Olesen MS, Anselmetti D, Christensen AH, Kimonis V, Milting H. | 08/16/2014 |