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Congenital muscular dystrophy

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https://www.readbyqxmd.com/read/28441765/distinct-fiber-type-signature-in-mouse-muscles-expressing-a-mutant-lamin-a-responsible-for-congenital-muscular-dystrophy-in-a-patient
#1
Alice Barateau, Nathalie Vadrot, Onnik Agbulut, Patrick Vicart, Sabrina Batonnet-Pichon, Brigitte Buendia
Specific mutations in LMNA, which encodes nuclear intermediate filament proteins lamins A/C, affect skeletal muscle tissues. Early-onset LMNA myopathies reveal different alterations of muscle fibers, including fiber type disproportion or prominent dystrophic and/or inflammatory changes. Recently, we identified the p.R388P LMNA mutation as responsible for congenital muscular dystrophy (L-CMD) and lipodystrophy. Here, we asked whether viral-mediated expression of mutant lamin A in murine skeletal muscles would be a pertinent model to reveal specific muscle alterations...
April 24, 2017: Cells
https://www.readbyqxmd.com/read/28433477/novel-mutations-in-the-c-terminal-region-of-gmppb-causing-limb-girdle-muscular-dystrophy-overlapping-with-congenital-myasthenic-syndrome
#2
Sushan Luo, Shuang Cai, Susan Maxwell, Dongyue Yue, Wenhua Zhu, Kai Qiao, Zhen Zhu, Lei Zhou, Jianying Xi, Jiahong Lu, David Beeson, Chongbo Zhao
Mutations in the GMPPB gene may underlie both limb girdle muscular dystrophy (LGMD) and congenital myasthenic syndrome (CMS). Forty-one cases have been reported to date and hotspot mutations are emerging in the Caucasian population. Clinical and pathological features of 5 patients with compound heterozygous GMPPB mutations were collected and retrospectively reviewed. In vitro functional analysis was performed to investigate the pathogeneity of GMPPB variants. The patients presented with proximal limb weakness in their first to second decades...
March 10, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28428837/large-is-required-for-normal-astrocyte-migration-and-retinal-vasculature-development
#3
Min Zhou, Herui Wang, Hui Ren, Rui Jiang, Chi Zhang, Xiaohui Wu, Gezhi Xu
BACKGROUND: Persistent fetal vasculature (PFV) is a congenital developmental anomaly of the eye that accounts for about 5% of childhood blindness. The molecular mechanism of PFV remains unclear. As a glycosyltransferase of α-dystroglycan, LARGE mutations have been found in congenital muscular dystrophy patients with brain abnormalities. Spontaneous Large mutant mice displayed similar symptoms of human muscle-eye-brain disorders. However, the detailed roles of Large in ocular vasculature development still need to be uncovered...
2017: Cell & Bioscience
https://www.readbyqxmd.com/read/28367954/bioenergetic-impairment-in-congenital-muscular-dystrophy-type-1a-and-leigh-syndrome-muscle-cells
#4
Cibely C Fontes-Oliveira, Maarten Steinz, Peter Schneiderat, Hindrik Mulder, Madeleine Durbeej
Skeletal muscle has high energy requirement and alterations in metabolism are associated with pathological conditions causing muscle wasting and impaired regeneration. Congenital muscular dystrophy type 1A (MDC1A) is a severe muscle disorder caused by mutations in the LAMA2 gene. Leigh syndrome (LS) is a neurometabolic disease caused by mutations in genes related to mitochondrial function. Skeletal muscle is severely affected in both diseases and a common feature is muscle weakness that leads to hypotonia and respiratory problems...
April 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28356981/characteristic-expression-of-fukutin-in-gastric-cancer-among-atomic-bomb-survivors
#5
Trang T B Pham, Naohide Oue, Manabu Yamamoto, Megumu Fujihara, Teruyoshi Ishida, Shoichiro Mukai, Naoya Sakamoto, Kazuhiro Sentani, Wataru Yasui
Approximately 70 years have passed since the atomic bombs were dropped on Nagasaki and Hiroshima. To elucidate potential biomarkers and possible mechanisms of radiation-induced cancer, the expression of FKTN, which encodes fukutin protein and causes Fukuyama-type congenital muscular dystrophy, was analyzed in gastric cancer (GC) tissue samples from atomic bomb survivors. Expression of cluster of differentiation (CD) 10 was also evaluated, as it has previously been observed that positive fukutin expression was frequently noted in CD10-positive GC cases...
February 2017: Oncology Letters
https://www.readbyqxmd.com/read/28344438/learning-disabilities-in-neuromuscular-disorders-a-springboard-for-adult-life
#6
Guja Astrea, Roberta Battini, Sara Lenzi, Silvia Frosini, Silvia Bonetti, Elena Moretti, Silvia Perazza, Filippo M Santorelli, Chiara Pecini
Although the presence of cognitive deficits in Duchenne muscular dystrophy or myotonic dystrophy DM1 is well established in view of brain-specific expression of affected muscle proteins, in other neuromuscular disorders, such as congenital myopathies and limb-girdle muscular dystrophies, cognitive profiles are poorly defined. Also, there are limited characterization of the cognitive profile of children with congenital muscular dystrophies, notwithstanding the presence of cerebral abnormality in some forms, and in spinal muscular atrophies, with the exception of distal spinal muscular atrophy (such as the DYN1CH1- associated form)...
October 2016: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28334989/impaired-fetal-muscle-development-and-jak-stat-activation-mark-disease-onset-and-progression-in-a-mouse-model-for-merosin-deficient-congenital-muscular-dystrophy
#7
Andreia M Nunes, Ryan D Wuebbles, Apurva Sarathy, Tatiana M Fontelonga, Marianne Deries, Dean J Burkin, Sólveig Thorsteinsdóttir
Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is a dramatic neuromuscular disease in which crippling muscle weakness is evident from birth. Here we use the dyW mouse model for human MDC1A to trace the onset of the disease during development in utero. We find that myotomal and primary myogenesis proceed normally in homozygous dyW-/-embryos. Fetal dyW-/-muscles display the same number of myofibers as wildtype muscles, but by E18.5 dyW-/-muscles are significantly smaller and muscle size is not recovered post-natally...
March 7, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28325699/spinal-correction-in-patients-with-fukuyama-congenital-muscular-dystrophy
#8
Wataru Saito, Takanori Namba, Gen Inoue, Takayuki Imura, Masayuki Miyagi, Toshiyuki Nakazawa, Eiki Shirasawa, Kentaro Uchida, Masashi Takaso
BACKGROUND: Fukuyama congenital muscular dystrophy (FCMD) is one of the most common congenital progressive muscular dystrophies in Japan. Some patients develop a severe spinal deformity that leads to an unstable sitting position or pain. Since 2008, we have treated FCMD using posterior spinal fusion. This study reports the short-term clinical and radiographic results of posterior spinal correction and fusion in FCMD. METHODS: We retrospectively reviewed 11 consecutive FCMD patients, average age 13 years old, treated with posterior spinal instrumentation and fusion between 2008 and 2015...
March 18, 2017: Journal of Orthopaedic Science: Official Journal of the Japanese Orthopaedic Association
https://www.readbyqxmd.com/read/28318781/spinal-fusion-in-a-patient-with-fukuyama-congenital-muscular-dystrophy
#9
Kaori Hino, Mitsumasa Fukuda, Tadao Morino, Tadanori Ogata, Masanori Ito, Eiichi Ishii
Many studies have evaluated surgical treatments for spinal deformities in patients with neuromuscular disease. However, few reports have described patients with Fukuyama congenital muscular dystrophy (FCMD). A 13-year-old boy with FCMD was unable to sit for long periods or sleep in the supine position because of progressive scoliosis. His Cobb angle worsened from 27° to 41° in 5months. He underwent standard posterior spinal fusion and pedicle-screw-alone fixation from T5 to S1. Postoperatively, his Cobb angle improved from 41° to 25° without exacerbation for 2years...
March 16, 2017: Brain & Development
https://www.readbyqxmd.com/read/28303321/serial-prenatal-and-postnatal-mri-of-dystroglycanopathy-in-a-patient-with-familial-b3galnt2-mutation
#10
Mai-Lan Ho, Orit A Glenn, Eliott H Sherr, Jonathan B Strober
The dystroglycanopathies are a heterogeneous group of conditions, with mutations in B3GALNT2 described in association with congenital muscular dystrophy. The serial prenatal MRI findings in this disorder have not been well described. We present sequential prenatal and postnatal MRI findings in a boy with compound heterozygous mutations in B3GALNT2, as well as the MRI findings of his two siblings with similar mutations. These findings provide new insight into the molecular pathogenesis and neurodevelopment of congenital muscular dystrophy...
March 16, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28292283/carnitine-related-hypoglycemia-caused-by-3%C3%A2-days-of-pivalate-antibiotic-therapy-in-a-patient-with-severe-muscular-dystrophy-a-case-report
#11
Masanori Ito, Mitsumasa Fukuda, Yuka Suzuki, Hiroyuki Wakamoto, Eiichi Ishii
BACKGROUND: Long-term treatment with antibiotics containing pivalic acid may decrease serum carnitine concentration and can sometimes be associated with severe hypoglycemia and encephalopathy in infants. Little has been reported, however, on severe hypocarnitinemia induced by acute administration in older children. CASE PRESENTATION: We describe a 6-year-old Japanese girl with Fukuyama-type congenital muscular dystrophy who lost consciousness after 3 days of treatment with an antibiotic containing pivalic acid (cefditoren pivoxil)...
March 14, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28281577/potent-pro-inflammatory-and-pro-fibrotic-molecules-osteopontin-and-galectin-3-are-not-major-disease-modulators-of-laminin-%C3%AE-2-chain-deficient-muscular-dystrophy
#12
Kinga I Gawlik, Johan Holmberg, Martina Svensson, Mikaela Einerborg, Bernardo M S Oliveira, Tomas Deierborg, Madeleine Durbeej
A large number of human diseases are caused by chronic tissue injury with fibrosis potentially leading to organ failure. There is a need for more effective anti-fibrotic therapies. Congenital muscular dystrophy type 1A (MDC1A) is a devastating form of muscular dystrophy caused by laminin α2 chain-deficiency. It is characterized with early inflammation and build-up of fibrotic lesions, both in patients and MDC1A mouse models (e.g. dy(3K)/dy(3K)). Despite the enormous impact of inflammation on tissue remodelling in disease, the inflammatory response in MDC1A has been poorly described...
March 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28251761/3d-structural-analysis-of-protein-o-mannosyl-kinase-pomk-a-causative-gene-product-of-dystroglycanopathy
#13
Masamichi Nagae, Sushil K Mishra, Makiko Neyazaki, Rika Oi, Akemi Ikeda, Naohiro Matsugaki, Satoko Akashi, Hiroshi Manya, Mamoru Mizuno, Hirokazu Yagi, Koichi Kato, Toshiya Senda, Tamao Endo, Terukazu Nogi, Yoshiki Yamaguchi
Orchestration of the multiple enzymes engaged in O-mannose glycan synthesis provides a matriglycan on α-dystroglycan (α-DG) which attracts extracellular matrix (ECM) proteins such as laminin. Aberrant O-mannosylation of α-DG leads to severe congenital muscular dystrophies due to detachment of ECM proteins from the basal membrane. Phosphorylation at C6-position of O-mannose catalyzed by protein O-mannosyl kinase (POMK) is a crucial step in the biosynthetic pathway of O-mannose glycan. Several mis-sense mutations of the POMK catalytic domain are known to cause a severe congenital muscular dystrophy, Walker-Warburg syndrome...
April 2017: Genes to Cells: Devoted to Molecular & Cellular Mechanisms
https://www.readbyqxmd.com/read/28246169/expanded-polyalanine-tracts-function-as-nuclear-export-signals-and-promote-protein-mislocalization-via-eef1a1-factor
#14
Li Li, Nelson Ka Lam Ng, Alex Chun Koon, Ho Yin Edwin Chan
Polyalanine (poly(A)) diseases are caused by the expansion of translated GCN triplet nucleotide sequences encoding poly(A) tracts in proteins. To date, nine human disorders have been found to be associated with poly(A) tract expansions, including congenital central hypoventilation syndrome and oculopharyngeal muscular dystrophy. Previous studies have demonstrated that unexpanded wild-type poly(A)-containing proteins localize to the cell nucleus, whereas expanded poly(A)-containing proteins primarily localize to the cytoplasm...
April 7, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28241031/a-novel-early-onset-phenotype-in-a-zebrafish-model-of-merosin-deficient-congenital-muscular-dystrophy
#15
Sarah J Smith, Jeffrey C Wang, Vandana A Gupta, James J Dowling
Merosin deficient congenital muscular dystrophy (MDC1A) is a severe neuromuscular disorder with onset in infancy that is associated with severe morbidities (particularly wheelchair dependence) and early mortality. It is caused by recessive mutations in the LAMA2 gene that encodes a subunit of the extracellular matrix protein laminin 211. At present, there are no treatments for this disabling disease. The zebrafish has emerged as a powerful model system for the identification of novel therapies. However, drug discovery in the zebrafish is largely dependent on the identification of phenotypes suitable for chemical screening...
2017: PloS One
https://www.readbyqxmd.com/read/28224647/electrical-impedance-myography-eim-in-individuals-with-col6-and-lama2-congenital-muscular-dystrophy-a-cross-sectional-and-two-year-analysis
#16
Carmel Nichols, Minal S Jain, Katherine G Meilleur, Tianxia Wu, James Collins, Melissa R Waite, Jahannaz Dastgir, Anam Salman, Sandra Donkervoort, Tina Duong, Katherine Keller, Meganne E Leach, Donovan J Lott, Michelle N McGuire, Leslie Nelson, Anne Rutkowski, Carole Vuillerot, Carsten G Bönnemann, Tanya J Lehky
INTRODUCTION: Electrical impedance myography (EIM) is a non-invasive electrophysiological technique that characterizes muscle properties through bioimpedance. We compared EIM measurements to function, strength, and disease severity in a population with congenital muscular dystrophy (CMD). METHODS: Forty-one patients with CMD, either collagen 6 related disorders (COL6-RD) (n = 21) or laminin alpha 2-related disorders (LAMA2-RD) (n = 20) and 21 healthy pediatric controls underwent 2 yearly EIM exams...
February 22, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28224104/exertional-rhabdomyolysis-and-heat-stroke-beware-of-volatile-anesthetic-sedation
#17
REVIEW
Karel Heytens, Jan De Bleecker, Walter Verbrugghe, Jonathan Baets, Luc Heytens
In view of the enormous popularity of mass sporting events such as half-marathons, the number of patients with exertional rhabdomyolysis or exercise-induced heat stroke admitted to intensive care units (ICUs) has increased over the last decade. Because these patients have been reported to be at risk for malignant hyperthermia during general anesthesia, the intensive care community should bear in mind that the same risk of life-threatening rhabdomyolysis is present when these patients are admitted to an ICU, and volatile anesthetic sedation is chosen as the sedative technique...
February 4, 2017: World Journal of Critical Care Medicine
https://www.readbyqxmd.com/read/28221312/what-s-in-the-literature
#18
David Lacomis, Nicholas J Silvestri, Edward J Fine, Gil I Wolfe
In this edition of this column, we review new studies concerning the pathophysiology, treatment, and outcomes of patients with necrotizing myopathy, genetic testing in congenital myopathies, and limb girdle muscular dystrophies, and the incidence of polyneuropathy in the myotonic dystrophies. Various studies in myasthenia gravis, including those concerning antibody testing, clinical features, and quality of life are also reviewed as are recent findings in congenital myasthenic syndromes. Finally, 2 studies concerning polyneuropathy are discussed, including one on the association of polyneuropathy in patients with the metabolic syndrome and one on laboratory testing in patients with otherwise idiopathic small fiber polyneuropathy...
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28218619/muscular-dystrophy-meets-protein-biochemistry-the-mother-of-invention
#19
Steven D Funk, Jeffrey H Miner
Muscular dystrophies result from a defect in the linkage between the muscle fiber cytoskeleton and the basement membrane (BM). Congenital muscular dystrophy type MDC1A is caused by mutations in laminin α2 that either reduce its expression or impair its ability to polymerize within the muscle fiber BM. Defects in this BM lead to muscle fiber damage from the force of contraction. In this issue of the JCI, McKee and colleagues use a laminin polymerization-competent, designer chimeric BM protein in vivo to restore function of a polymerization-defective laminin, leading to normalized muscle structure and strength in a mouse model of MDC1A...
March 1, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28218617/chimeric-protein-repair-of-laminin-polymerization-ameliorates-muscular-dystrophy-phenotype
#20
Karen K McKee, Stephanie C Crosson, Sarina Meinen, Judith R Reinhard, Markus A Rüegg, Peter D Yurchenco
Mutations in laminin α2-subunit (Lmα2, encoded by LAMA2) are linked to approximately 30% of congenital muscular dystrophy cases. Mice with a homozygous mutation in Lama2 (dy2J mice) express a nonpolymerizing form of laminin-211 (Lm211) and are a model for ambulatory-type Lmα2-deficient muscular dystrophy. Here, we developed transgenic dy2J mice with muscle-specific expression of αLNNd, a laminin/nidogen chimeric protein that provides a missing polymerization domain. Muscle-specific expression of αLNNd in dy2J mice resulted in strong amelioration of the dystrophic phenotype, manifested by the prevention of fibrosis and restoration of forelimb grip strength...
March 1, 2017: Journal of Clinical Investigation
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