scholarly journals Duchenne muscular dystrophy: alpha-dystroglycan immunoexpression in skeletal muscle and cognitive performance

2005 ◽  
Vol 63 (4) ◽  
pp. 984-989 ◽  
Author(s):  
Conceição Campanario da Silva Pereira ◽  
Beatriz Hitomi Kiyomoto ◽  
Ricardo Cardoso ◽  
Acary Souza Bulle Oliveira
Keyword(s):  
Skeletal Muscle ◽  
Muscular Dystrophy ◽  
Cognitive Performance ◽  
Intelligence Quotient ◽  
Intelligence Scale ◽  
Verbal Iq ◽  
Alpha Dystroglycan ◽  
The Relationship ◽  
Muscle Biopsies ◽  
Low Expression

The Duchenne muscular systrophy (DMD) is a muscular dystrophy with cognitive impairment present in 20-30% of the cases. In the present study, in order to study the relationship between the alpha-dystroglycan (alpha-DG) immunostaining in skeletal muscle and cognitive performance in DMD patients, 19 were assessed. Twelve patients performed the intelligence quotient (IQ) below the average. Among the 19 patients, two were assessed by the Stanford-Binet test and 17 by Wechsler Intelligence Scale for Children-III (WISC-III). Nine patients performed a verbal IQ below the average, only three patients performed an average verbal IQ. The muscle biopsies immunostained with antibodies to alpha-DG showed that 17 patients presented a low expression, below 25% of the total fibers. Two patients presented alpha-DG immunostaining above 40% and an IQ within the average. No significant statistical relationship was demonstrated among total IQ, verbal IQ and execution IQ and alpha-DG immunostaining at these patients muscle samples.

Comparison of Erythrocyte and Skeletal Muscle Creatine Accumulation Following Creatine Loading

2005 ◽  
Vol 15 (1) ◽  
pp. 84-93 ◽  
Author(s):  
David B. Preen ◽  
Brian T. Dawson ◽  
Carmel Goodman ◽  
John Beilby ◽  
Simon Ching
Keyword(s):  
Skeletal Muscle ◽  
Muscle Biopsy ◽  
Vastus Lateralis ◽  
Venous Blood ◽  
Strong Relationship ◽  
Reliable Measure ◽  
Tissue Concentrations ◽  
Muscle Creatine ◽  
The Relationship ◽  
Muscle Biopsies

This study attempted to determine the relationship between creatine (Cr) accumulation in human skeletal muscle and erythrocytes following Cr supplementation. If a strong relationship exists, a blood test might provide a practical, less invasive alternative than muscle biopsy for evaluating cellular Cr accumulation. Eighteen active, but not well-trained males were supplemented with Cr (4 × 5g/d) for 5 d. Muscle biopsies (vastus lateralis) were obtained pre- and post-loading and analyzed for Cr, phosphocreatine (PCr), and total Cr (TCr) content. Venous blood was also drawn at these times to determine erythrocyte Cr concentrations. Muscle Cr, PCr, and TCr concentrations were elevated (P < 0.05) by 39.8%, 7.5%, and 20.1% respectively following supplementation. Erythrocyte Cr concentrations were also elevated (P < 0.01) following the loading period, although to a greater relative degree than tissue concentrations (129.6%). Pre- and post-loading erythrocyte Cr concentrations were poorly and nonsignificantly correlated with that observed in skeletal muscle. Further, loading-mediated increases in erythrocyte Cr concentrations were poorly correlated with elevations in muscle Cr (r = 0.07), PCr (r = 0.06) or TCr (r = 0.04) concentrations. Erythrocyte Cr concentrations can be augmented by 5 d of Cr supplementation, however, this elevation does not reflect that observed in skeletal muscle obtained by muscle biopsy. Consequently, erythrocyte response to Cr loading is not a reliable measure of skeletal muscle Cr/TCr accumulation.

Correlations for Wechsler Intelligence Scale for Children—Revised and the Wechsler Preschool and Primary Scale of Intelligence for Iranian Children

1992 ◽  
Vol 70 (1) ◽  
pp. 27-30 ◽  
Author(s):  
Sima Shahim
Keyword(s):  
Full Scale ◽  
Intelligence Scale ◽  
Verbal Iq ◽  
Primary Scale ◽  
Vocabulary Comprehension ◽  
Picture Completion ◽  
The Mean ◽  
Iranian Children ◽  
The Relationship ◽  
Pearson Correlations

This study focused on the relationship between the Wechsler Intelligence Scale for Children—Revised (WISC—R) and the Wechsler Preschool and Primary Scale of Intelligence (WPPSI) given to 40 6-yr.-old Iranian children. Pearson correlations between the WISC—R and the WPPSI IQs and between scaled scores on the corresponding subtests were significant. The comparison of mean IQs and scaled scores indicates that the WISC—R yielded a significantly higher Verbal IQ and higher scores on Information, Vocabulary, Comprehension, and Picture Completion than the WPPSI. The mean difference between corresponding Verbal and Full Scale IQs was not significant. These results suggest that scores on the two instruments correlated well for these 6-yr.-old Iranian children and the content on which IQs for the recently restandardized WISC—R and WPPSI are based are related.

scholarly journals Role of dystroglycan in limiting contraction-induced injury to the sarcomeric cytoskeleton of mature skeletal muscle

2016 ◽  
Vol 113 (39) ◽  
pp. 10992-10997 ◽  
Author(s):  
Erik P. Rader ◽  
Rolf Turk ◽  
Tobias Willer ◽  
Daniel Beltrán ◽  
Kei-ichiro Inamori ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Muscular Dystrophy ◽  
Pathological Feature ◽  
Passive Tension ◽  
Lengthening Contractions ◽  
Mechanistic Insight ◽  
The Stability ◽  
Muscle Biopsies ◽  
Insight Into

Dystroglycan (DG) is a highly expressed extracellular matrix receptor that is linked to the cytoskeleton in skeletal muscle. DG is critical for the function of skeletal muscle, and muscle with primary defects in the expression and/or function of DG throughout development has many pathological features and a severe muscular dystrophy phenotype. In addition, reduction in DG at the sarcolemma is a common feature in muscle biopsies from patients with various types of muscular dystrophy. However, the consequence of disrupting DG in mature muscle is not known. Here, we investigated muscles of transgenic mice several months after genetic knockdown of DG at maturity. In our study, an increase in susceptibility to contraction-induced injury was the first pathological feature observed after the levels of DG at the sarcolemma were reduced. The contraction-induced injury was not accompanied by increased necrosis, excitation–contraction uncoupling, or fragility of the sarcolemma. Rather, disruption of the sarcomeric cytoskeleton was evident as reduced passive tension and decreased titin immunostaining. These results reveal a role for DG in maintaining the stability of the sarcomeric cytoskeleton during contraction and provide mechanistic insight into the cause of the reduction in strength that occurs in muscular dystrophy after lengthening contractions.

scholarly journals Clinical and Experimental Results on Cardiac Troponin Expression in Duchenne Muscular Dystrophy

2001 ◽  
Vol 47 (3) ◽  
pp. 451-458 ◽  
Author(s):  
Angelika Hammerer-Lercher ◽  
Petra Erlacher ◽  
Reginald Bittner ◽  
Rudolf Korinthenberg ◽  
Daniela Skladal ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Western Blot ◽  
Blot Analysis ◽  
Cardiac Troponin ◽  
Western Blot Analysis ◽  
Clinical Evidence ◽  
Mdx Mouse ◽  
Muscle Biopsies

Abstract Background: Because of controversial earlier studies, the purpose of this study was to provide novel experimental and additional clinical data regarding the possible reexpression of cardiac troponin T (cTnT) in regenerating skeletal muscle in Duchenne muscular dystrophy (DMD). Methods: Plasma from 14 patients (mean age, 7.5 years; range, 5.7–19.4 years) with DMD was investigated for creatine kinase (CK), the CK MB isoenzyme (CKMB), cTnT and cardiac troponin I (cTnI), and myoglobin. cTnT concentrations were measured by an ELISA (second-generation assay; Roche) using the ES 300 Analyzer. cTnI, myoglobin, and CKMB were measured by an ELISA using the ACCESS System (Beckman Diagnostics). Troponin isoform expression was studied by Western blot analysis in remnants of skeletal muscle biopsies of three patients with DMD and in an animal model of DMD (mdx mice; n = 6). Results: There was no relation of cTnT and cTnI to clinical evidence for cardiac failure. cTnI concentrations remained below the upper reference limit in all patients. cTnT was increased (median, 0.11 μg/L; range, 0.06–0.16 μg/L) in 50% of patients. The only significant correlation was found for CK (median, 3938 U/L; range, 2763–5030 U/L) with age (median, 7.5 years; range, 6.8–10.9 years; r = −0.762; P = 0.042). Western blot analysis of human or mouse homogenized muscle specimens showed no evidence for cardiac TnT and cTnI expression, despite strong signals for skeletal muscle troponin isoforms. Conclusions: We found no evidence for cTnT reexpression in human early-stage DMD and in mdx mouse skeletal muscle biopsies. Discrepancies of cTnT and cTnI in plasma samples of DMD patients were found, but neither cTnT nor cTnI plasma concentrations were related with other clinical evidence for cardiac involvement.

Intelligence and Music: Lower Intelligent Quotient Is Associated With Higher Use of Music for Experiencing Strong Sensations

2020 ◽  
pp. 027623742095141
Author(s):  
Leonardo Bonetti ◽  
Elvira Brattico ◽  
Peter Vuust ◽  
Marina Kliuchko ◽  
Suvi Saarikallio
Keyword(s):  
Sensation Seeking ◽  
Intelligence Quotient ◽  
Emotional Experience ◽  
Adult Intelligence Scale ◽  
Intelligence Scale ◽  
Verbal Iq ◽  
Wechsler Adult Intelligence Scale ◽  
Psychological Feature ◽  
Wechsler Adult Intelligence ◽  
The Individual

Intelligence is a key psychological feature associated to emotion and perception. Listening to music is often linked to emotional experience and sensation seeking (SS), traits that have been shown overall negatively correlated with intelligence. In a sample of 53 musicians and 54 non-musicians, we assessed the use of music for experiencing strong emotions through the Music in Mood Regulation (MMR) and the intelligence quotient (IQ) by using the Wechsler Adult Intelligence Scale III (WAIS-III). We found a negative correlation between the full IQ score and the use of music for SS in both musician and non-musician groups. Furthermore, the use of music for SS was negatively correlated with Verbal IQ in musicians, and with Performance IQ in non-musicians. Our findings indicate that less intelligent individuals make a higher use of music for experiencing strong sensations than more intelligent ones. Furthermore, this association is modulated by the individual musical expertise.

scholarly journals HUBUNGAN ANTARA NEUROLOGICAL SOFT SIGN DENGAN INTELLIGENCE QUOTIENT PADA ANAK USIA 8-9 TAHUN

2018 ◽  
Vol 35 (4) ◽  
Author(s):  
Lani Satiyani ◽  
Siti Aminah ◽  
Paulus Anam Ong
Keyword(s):  
Intelligence Quotient ◽  
Inverse Correlation ◽  
Full Scale ◽  
Case Group ◽  
Intelligence Scale ◽  
Neurological Soft Signs ◽  
Study Case ◽  
And Performance ◽  
The Relationship ◽  
Control Study

   ASSOCIATION BETWEEN NEUROLOGICAL SOFT SIGN AND IQ IN 8-9 YEARS OLDABSTRACTIntroduction: Neurological soft signs (NSS) are common findings in developing children and tend to disappear as the child grows up. Their persistence into later years correlate with motor and cognitive development disturbance.Aim: To examine the relationship between NSS and intelligence quotient (IQ) in 8-9 years old children in Bandung.Methods: This analytic observational case control study was conducted in elementary school children in Bandung from May to July 2017. The case group is defined as subject with NSS score ≥7, while controls are those with NSS score <7. Neurological soft signs was assessed with Gillberg method and IQ (original, full scale, performance, and performance) was assessed with Wechsler Intelligence Scale for Children (WISC)-III. Statistical analyses were performed to find the relationship between NSS and IQ score.Results: Sixty eight subjects, majority were male (61.76%) with median age 8.8 (8-9) years old took part in the study. Case group had lower mean score of IQ significantly. Subjects with higher NSS score had risk of having having lower full scale and performance IQ 4.94 and 11.20 times compared to subjects with lower NSS. There was an inverse correlation between NSS score and organizational IQ.Discussion: Subjects retaining neurological soft sign have the possibility of having lower IQ compared to subjects without NSS.Keyword: Children, intelligence quotient, neurological soft signABSTRAKPendahuluan: Neurological soft sign (NSS) sering ditemukan pada anak dalam masa tumbuh kembang dan menghilang dengan bertambahnya usia. Menetapnya NSS pada usia tertentu berhubungan dengan gangguan perkembangan motorik dan fungsi kognisi.Tujuan: Mengetahui hubungan antara NSS dengan nilai intelligence quotient (IQ) anak usia 8-9 tahun di kota Bandung.Metode: Penelitian observasi analitik dengan desain kasus kontrol pada anak sekolah dasar di kota Bandung pada bulan Mei sampai Juli 2017. Kelompok kasus adalah subjek dengan skor NSS ≥7, sedangkan kontrol adalah subjek dengan skor NSS <7. Pemeriksaan NSS menurut metode Gillberg, sedangkan kecerdasan anak berdasarkan IQ menggunakan Wechsler Intelligence Scale for Children (WISC)-III. Dilakukan uji statistik untuk mencari hubungan antara NSS dengan IQ.Hasil: Didapatkan 68 subjek yang mayoritas laki-laki (61,76%) dengan median usia 8,8 (8-9,9) tahun. Kelompok kasus memiliki nilai rerata IQ lebih rendah dibandingkan dengan kontrol secara bermakna. Subjek dengan skor NSS tinggi mempunyai kemungkinan sebesar 4,94 dan 11,20 kali untuk memiliki skor full scale IQ (FSIQ) dan performance IQ (PIQ) yang lebih rendah dibandingkan subjek dengan NSS rendah. Terdapat korelasi negatif yang bermakna antara skor NSS dengan organizational IQ (OIQ).Diskusi: Subjek dengan neurological soft sign yang menetap memiliki kemungkinan nilai IQ yang lebih rendah dari pada yang tanpa gejala NSS.Kata kunci: Anak, intelligence quotient, neurological soft sign 

scholarly journals Lamin-related congenital muscular dystrophy alters mechanical signaling and skeletal muscle growth

2020 ◽  
Author(s):  
Daniel J. Owens ◽  
Julien Messéant ◽  
Sophie Moog ◽  
Mark Viggars ◽  
Arnaud Ferry ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Muscular Dystrophy ◽  
Disease Severity ◽  
Myogenic Differentiation ◽  
Muscle Growth ◽  
Congenital Muscular Dystrophy ◽  
Skeletal Muscle Growth ◽  
Muscle Biopsies

AbstractBackgroundLaminopathies are a clinically heterogeneous group of disorders caused by mutations in the LMNA gene, which encodes the nuclear envelope proteins lamins A and C. The most frequent diseases associated with LMNA mutations are characterized by skeletal and cardiac involvement, and include autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy type 1B, and LMNA-related congenital muscular dystrophy (LMNA-CMD). Although the exact pathophysiological mechanisms responsible for LMNA-CMD are not yet understood, severe contracture and muscle atrophy suggest that impair skeletal muscle growth may contribute to the disease severity.MethodsWe used human muscle stem cells (MuSCs) carrying 4 different LMNA mutations and two mouse models of muscle laminopathies, representing a spectrum of disease severity, to investigate the ability of skeletal muscle to differentiate and to hypertrophy in response to mechanical challenges. We extended these finding to individuals with LMNA-related muscular dystrophy using muscle biopsies.ResultsIn vitro, we observe impaired myogenic differentiation with disorganized cadherin/β catenin adhesion complexes in MuSCs carrying LMNA-CMD. We show that skeletal muscle from Lmna-CMD mice is unable to hypertrophy in response to functional overload, due to defective accretion of activated MuSCs, defective protein synthesis and defective remodeling of the neuro-muscular junction. Moreover, stretched myotubes and overloaded muscle fibers with LMNA-CMD mutations display aberrant mechanical regulation of the Yes-Associated Protein (YAP), a key sensor and mediator of mechanical cues. We also observe defects in MuSC activation and YAP signaling in muscle biopsies from LMNA-CMD patients. These phenotypes are not recapitulated in closely-related EDMD models.ConclusionsCombining studies in vitro, in vivo and patient samples, we find that LMNA-CMD mutations interfere with mechano-signaling pathways in skeletal muscle, implicating defective skeletal muscle growth as a pathogenic contributor for the severity of LMNA-related muscular dystrophy.

scholarly journals Muscle-Related Plectinopathies

Cells ◽  
2021 ◽  
Vol 10 (9) ◽  
pp. 2480
Author(s):  
Michaela M. Zrelski ◽  
Monika Kustermann ◽  
Lilli Winter
Keyword(s):  
Skeletal Muscle ◽  
Muscular Dystrophy ◽  
Epidermolysis Bullosa Simplex ◽  
Progressive Muscle Weakness ◽  
Mitochondrial Alterations ◽  
Cytoplasmic Bodies ◽  
Downstream Effects ◽  
Myasthenic Syndrome ◽  
Genetically Manipulated ◽  
Muscle Biopsies

Plectin is a giant cytoskeletal crosslinker and intermediate filament stabilizing protein. Mutations in the human plectin gene (PLEC) cause several rare diseases that are grouped under the term plectinopathies. The most common disorder is autosomal recessive disease epidermolysis bullosa simplex with muscular dystrophy (EBS-MD), which is characterized by skin blistering and progressive muscle weakness. Besides EBS-MD, PLEC mutations lead to EBS with nail dystrophy, EBS-MD with a myasthenic syndrome, EBS with pyloric atresia, limb-girdle muscular dystrophy type R17, or EBS-Ogna. In this review, we focus on the clinical and pathological manifestations caused by PLEC mutations on skeletal and cardiac muscle. Skeletal muscle biopsies from EBS-MD patients and plectin-deficient mice revealed severe dystrophic features with variation in fiber size, degenerative myofibrillar changes, mitochondrial alterations, and pathological desmin-positive protein aggregates. Ultrastructurally, PLEC mutations lead to a disorganization of myofibrils and sarcomeres, Z- and I-band alterations, autophagic vacuoles and cytoplasmic bodies, and misplaced and degenerating mitochondria. We also summarize a variety of genetically manipulated mouse and cell models, which are either plectin-deficient or that specifically lack a skeletal muscle-expressed plectin isoform. These models are powerful tools to study functional and molecular consequences of PLEC defects and their downstream effects on the skeletal muscle organization.

scholarly journals Lamin-Related Congenital Muscular Dystrophy Alters Mechanical Signaling and Skeletal Muscle Growth

2020 ◽  
Vol 22 (1) ◽  
pp. 306
Author(s):  
Daniel J. Owens ◽  
Julien Messéant ◽  
Sophie Moog ◽  
Mark Viggars ◽  
Arnaud Ferry ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Muscular Dystrophy ◽  
Muscle Growth ◽  
Congenital Muscular Dystrophy ◽  
Muscle Stem Cells ◽  
Skeletal Muscle Growth ◽  
Mechanical Signaling ◽  
Muscle Biopsies

Laminopathies are a clinically heterogeneous group of disorders caused by mutations in the LMNA gene, which encodes the nuclear envelope proteins lamins A and C. The most frequent diseases associated with LMNA mutations are characterized by skeletal and cardiac involvement, and include autosomal dominant Emery–Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy type 1B, and LMNA-related congenital muscular dystrophy (LMNA-CMD). Although the exact pathophysiological mechanisms responsible for LMNA-CMD are not yet understood, severe contracture and muscle atrophy suggest that mutations may impair skeletal muscle growth. Using human muscle stem cells (MuSCs) carrying LMNA-CMD mutations, we observe impaired myogenic fusion with disorganized cadherin/β catenin adhesion complexes. We show that skeletal muscle from Lmna-CMD mice is unable to hypertrophy in response to functional overload, due to defective fusion of activated MuSCs, defective protein synthesis and defective remodeling of the neuromuscular junction. Moreover, stretched myotubes and overloaded muscle fibers with LMNA-CMD mutations display aberrant mechanical regulation of the yes-associated protein (YAP). We also observe defects in MuSC activation and YAP signaling in muscle biopsies from LMNA-CMD patients. These phenotypes are not recapitulated in closely related but less severe EDMD models. In conclusion, combining studies in vitro, in vivo, and patient samples, we find that LMNA-CMD mutations interfere with mechanosignaling pathways in skeletal muscle, implicating A-type lamins in the regulation of skeletal muscle growth.

scholarly journals TRAPPC11 ‐related muscular dystrophy with hypoglycosylation of alpha‐dystroglycan in skeletal muscle and brain

2021 ◽  
Author(s):  
Pinki Munot ◽  
Nadine McCrea ◽  
Silvia Torelli ◽  
Adnan Manzur ◽  
Caroline Sewry ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Muscular Dystrophy ◽  
Alpha Dystroglycan
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