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Aberrations in energetic metabolism and stress-related pathways contribute to pathophysiology in the Neb cKO mouse model of nemaline myopathy
Am J Pathol. 2023 Jul 6:S0002-9440(23)00240-7. doi: 10.1016/j.ajpath.2023.06.009. Online ahead of print.ABSTRACTNemaline myopathy (NM) is a genetically and clinically heterogeneous disease that is diagnosed based on the presence of nemaline rods on skeletal muscle biopsy. While NM has typically been classified by causative genes, disease severity or prognosis cannot be predicted well. The common pathological endpoint of nemaline rods (despite diverse genetic causes) and an unexplained range of muscle weakness suggests that shared secondary processes contributed to the pathogenesis of NM. We speculated that these processes ...
Source: Am J Pathol - July 8, 2023 Category: Pathology Authors: Rebecca A Slick Jennifer A Tinklenberg Jessica Sutton Liwen Zhang Hui Meng Margaret Beatka Mark Vanden Avond Mariah J Prom Emily Ott Federica Montanaro James Heisner Rafael Toro Henk Granzier Aron M Geurts David Stowe R Blake Hill Michael W Lawlor Source Type: research

Impact of metformin on statin ‐associated myopathy risks in dyslipidemia patients
This study found that a comedication with metformin was associated with decreased myopathy risk in statin-treated dyslipidemia patients compared to statin-only users. Our findings suggest that metformin may provide protective effects on potential muscle toxicities induced by statin therapy.
Source: Pharmacology Research and Perspectives - July 8, 2023 Category: Drugs & Pharmacology Authors: Keunhyeong Bak, Suhyeon Moon, Minjung Ko, Yeo Jin Choi, Sooyoung Shin Tags: ORIGINAL ARTICLE Source Type: research

Different mouse models of nemaline myopathy harboring Acta1 mutations display differing abnormalities related to mitochondrial biology
Am J Pathol. 2023 Jul 5:S0002-9440(23)00239-0. doi: 10.1016/j.ajpath.2023.06.008. Online ahead of print.ABSTRACTACTA1 encodes skeletal muscle-specific α-actin, which polymerizes to form the thin filament of the sarcomere. Mutations in ACTA1 are responsible for roughly 30% of nemaline myopathy (NM) cases. Previous studies of weakness in NM have focused on muscle structure and contractility, but genetic issues alone do not explain the phenotypic heterogeneity observed in NM patients or mouse models. To identify additional biological processes related to NM phenotypic severity, proteomic analysis was performed using muscle p...
Source: Am J Pathol - July 7, 2023 Category: Pathology Authors: Jennifer A Tinklenberg Rebecca A Slick Jessica Sutton Liwen Zhang Hui Meng Margaret J Beatka Mark Vanden Avond Mariah J Prom Emily Ott Federica Montanaro James Heisner Rafael Toro Edna C Hardeman Aron M Geurts David Stowe R Blake Hill Michael W Lawlor Source Type: research

Mitochondrial encephalopathy with lactic-acidosis and stroke-like episodes syndrome presenting as progressive supranuclear palsy
Clinical manifestations of MELAS are broad and include stroke-like episodes, myopathy, cardiomyopathy, headaches, hearing impairment, dementia, epilepsy, lactic acidemia, cyclic vomiting, diabetes, and short stature. Most cases of MELAS present early in childhood, with only 1 –6% presenting after the age of 40 [1]. Progressive supranuclear palsy (PSP) is a neurodegenerative disorder which can be mimicked by a variety of conditions, such as CADASIL, cerebrovascular disease, and autoimmune encephalitis [2].
Source: Parkinsonism and Related Disorders - July 7, 2023 Category: Neurology Authors: Reece M. Hass, Jennifer L. Whitwell, Elizabeth Y. Coon, Keith A. Josephs, Farwa Ali Tags: Correspondence Source Type: research

Chest configuration in children and adolescents with infantile nephropathic cystinosis compared with other chronic kidney disease entities and its clinical determinants
ConclusionOur data show an INC-specific alteration in thoracic shape from early childhood onward, which is distinct from CKD of other etiologies, suggesting early childhood subclinical changes of the musculoskeletal unit of the thoracic cage, which are associated with kidney function.Graphical abstractA higher resolution version of the Graphical abstract is available asSupplementary information
Source: Pediatric Nephrology - July 7, 2023 Category: Urology & Nephrology Source Type: research

Intrafamilial phenotypic heterogeneity in GIPC1-related oculopharyngodistal myopathy type 2: A case report
Oculopharyngodistal myopathy (OPDM; OMIM 164310) is a rare adult-onset neuromuscular disease characterized by progressive weakness in ocular, facial, bulbar and distal limb muscles [1 –3]. The myopathological features include myopathic change with rimmed vacuoles. Ultrastructural examinations of the central and peripheral nervous system tissues, skeletal muscles and skin demonstrate abundant round, eosinophilic intranuclear inclusions [1–3]. Since first acknowledgement in 197 7 [4], more than 300 individuals with OPDM have been reported worldwide [1–14].
Source: Neuromuscular Disorders - July 7, 2023 Category: Neurology Authors: Xinyu Gu, Kexin Jiao, Dongyue Yue, Xilu Wang, Kai Qiao, Mingshi Gao, Jie Lin, Chong Sun, Chongbo Zhao, Wenhua Zhu, Jianying Xi Tags: Case report Source Type: research

Aberrations in energetic metabolism and stress-related pathways contribute to pathophysiology in the Neb cKO mouse model of nemaline myopathy
Nemaline myopathy (NM) is a genetically and clinically heterogeneous disease that is diagnosed based on the presence of nemaline rods on skeletal muscle biopsy. While NM has typically been classified by causative genes, disease severity or prognosis cannot be predicted well. The common pathological endpoint of nemaline rods (despite diverse genetic causes) and an unexplained range of muscle weakness suggests that shared secondary processes contributed to the pathogenesis of NM. We speculated that these processes could be identified through a proteome wide interrogation utilizing a mouse model of severe NM in combination wi...
Source: American Journal of Pathology - July 5, 2023 Category: Pathology Authors: Rebecca A. Slick, Jennifer A. Tinklenberg, Jessica Sutton, Liwen Zhang, Hui Meng, Margaret Beatka, Mark Vanden Avond, Mariah J. Prom, Emily Ott, Federica Montanaro, James Heisner, Rafael Toro, Henk Granzier, Aron M. Geurts, David Stowe, R. Blake Hill, Mic Tags: Regular Article Source Type: research

Different mouse models of nemaline myopathy harboring Acta1 mutations display differing abnormalities related to mitochondrial biology
ACTA1 encodes skeletal muscle-specific α-actin, which polymerizes to form the thin filament of the sarcomere. Mutations in ACTA1 are responsible for roughly 30% of nemaline myopathy (NM) cases. Previous studies of weakness in NM have focused on muscle structure and contractility, but genetic issues alone do not explain the phenotypic he terogeneity observed in NM patients or mouse models. To identify additional biological processes related to NM phenotypic severity, proteomic analysis was performed using muscle protein isolates from wild type (WT) mice in comparison to moderately affected KI.
Source: American Journal of Pathology - July 5, 2023 Category: Pathology Authors: Jennifer A. Tinklenberg, Rebecca A. Slick, Jessica Sutton, Liwen Zhang, Hui Meng, Margaret J. Beatka, Mark Vanden Avond, Mariah J. Prom, Emily Ott, Federica Montanaro, James Heisner, Rafael Toro, Edna C. Hardeman, Aron M. Geurts, David Stowe, R. Blake Hil Tags: Regular Article Source Type: research

Net39 protects muscle nuclei from mechanical stress during the pathogenesis of Emery-Dreifuss muscular dystrophy
Mutations in genes encoding nuclear envelope proteins lead to diseases known as nuclear envelopathies, characterized by skeletal muscle and heart abnormalities, such as Emery-Dreifuss muscular dystrophy (EDMD). The tissue-specific role of the nuclear envelope in the etiology of these diseases has not been extensively explored. We previously showed that global deletion of the muscle-specific nuclear envelope protein NET39 in mice leads to neonatal lethality due to skeletal muscle dysfunction. To study the potential role of the Net39 gene in adulthood, we generated a muscle-specific conditional knockout (cKO) of Net39 in mic...
Source: Journal of Clinical Investigation - July 3, 2023 Category: Biomedical Science Authors: Yichi Zhang, Andres Ramirez-Martinez, Kenian Chen, John R. McAnally, Chunyu Cai, Mateusz Z. Durbacz, Francesco Chemello, Zhaoning Wang, Lin Xu, Rhonda Bassel-Duby, Ning Liu, Eric N. Olson Source Type: research

Anti-Ku antibody-positive systemic sclerosis and idiopathic inflammatory myopathies overlap syndrome in children: a report of two cases and a review of the literature
AbstractThe occurrence of anti-Ku antibody-positive idiopathic inflammatory myopathy (IIM) in pediatric patients is rare, and therefore, the clinical phenotypes of this disease in such patients remain obscure. We herein report two cases of Japanese female pediatric patients with anti-Ku antibody-positive IIM. One case was unique in that it was complicated by pericardial effusion. Another patient had severe and refractory myositis with immune-mediated necrotizing myopathy. In addition, we reviewed literatures involving a total of 11 pediatric patients with anti-Ku antibody-positive IIM. The median age of the patients was 11...
Source: Clinical Rheumatology - July 2, 2023 Category: Rheumatology Source Type: research