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neutral lipid storage disease with myopathy

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https://www.readbyqxmd.com/read/30223778/novel-pnpla2-gene-mutation-in-a-child-causing-neutral-lipid-storage-disease-with-myopathy
#1
Shouyan Zheng, Wei Liao
BACKGROUND: PNPLA2 gene mutations cause neutral lipid storage disease with myopathy (NLSD-M) or cardiomyopathies. The clinical phenotype, blood test results, imaging examination and gene analysis can be used to improve the understanding of NLSD-M, reduce the misdiagnosis rate and prevent physical disability and even premature death. CASE PRESENTATION: We report a Chinese child with NLSD-M presenting with marked asymmetric skeletal myopathy and hypertrophic cardiomyopathy...
September 17, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/30099045/lipid-storage-myopathies-current-treatments-and-future-directions
#2
REVIEW
Emily R Vasiljevski, Matthew A Summers, David G Little, Aaron Schindeler
Lipid storage myopathies (LSMs) are a heterogeneous group of genetic disorders that present with abnormal lipid storage in multiple body organs, typically muscle. Patients can clinically present with cardiomyopathy, skeletal muscle weakness, myalgia, and extreme fatigue. An early diagnosis is crucial, as some LSMs can be managed by simple nutraceutical supplementation. For example, high dosage l-carnitine is an effective intervention for patients with Primary Carnitine Deficiency (PCD). This review discusses the clinical features and management practices of PCD as well as Neutral Lipid Storage Disease (NLSD) and Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)...
August 9, 2018: Progress in Lipid Research
https://www.readbyqxmd.com/read/29779757/neutral-lipid-storage-disease-with-myopathy-further-phenotypic-characterization-of-a-rare-pnpla2-variant
#3
Caitlin S Latimer, Jennifer Schleit, Adam Reynolds, Desiree A Marshall, Benjamin Podemski, Leo H Wang, Luis F Gonzalez-Cuyar
Neutral lipid storage disease with myopathy is a rare disorder of lipid metabolism caused by variants in the Patatin-Like Phospholipase Domain Containing 2 (PNPLA2) gene. Diagnosis is often delayed due to variable presentations, which is of concern due to increased risk of cardiomyopathy. Better phenotype-genotype characterization is necessary to improve speed and accuracy of diagnosis. Here, we describe a 32-year-old woman of Hmong descent with progressive muscle pain and weakness who had a muscle biopsy with characteristic features of a lipid storage myopathy...
July 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29539587/patients-with-neutral-lipid-storage-disease-with-myopathy-nlsdm-in-southwestern-china
#4
Jiaze Tan, Haitao Yang, Jingchuan Fan, Yulan Fan, Fei Xiao
OBJECTIVES: Neutral lipid storage disease with myopathy (NLSDM) is a rare metabolic myopathy occurring owing to mutations in the patatin like phospholipase domain containing 2 (PNPLA2) gene. Till date, less than 50 patients with PNPLA2 mutations have been reported. In this study, we describe the clinical, pathological, and genetic findings, and muscle magnetic resonance imaging (MRI) changes in four Chinese patients with NLSDM. PATIENTS AND METHODS: Peripheral blood smears were stained using Wright's stain...
May 2018: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29228356/dietary-intervention-rescues-myopathy-associated-with-neurofibromatosis-type-1
#5
Matthew A Summers, Thusitha Rupasinghe, Emily R Vasiljevski, Frances J Evesson, Kathy Mikulec, Lauren Peacock, Kate GR Quinlan, Sandra T Cooper, Ute Roessner, David A Stevenson, David G Little, Aaron Schindeler
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder with complex symptomology. In addition to a predisposition to tumors, children with NF1 can present with reduced muscle mass, global muscle weakness, and impaired motor skills, which can have a significant impact on quality of life. Genetic mouse models have shown a lipid storage disease phenotype may underlie muscle weakness in NF1. Herein we confirm that biopsy specimens from six individuals with NF1 similarly manifest features of a lipid storage myopathy, with marked accumulation of intramyocellular lipid, fibrosis, and mononuclear cell infiltrates...
February 15, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/28503705/muscle-mri-in-neutral-lipid-storage-disease-nlsd
#6
MULTICENTER STUDY
Matteo Garibaldi, Giorgio Tasca, Jordi Diaz-Manera, Pierfancesco Ottaviani, Francesco Laschena, Donatella Pantoli, Simonetta Gerevini, Chiara Fiorillo, Lorenzo Maggi, Elisabetta Tasca, Adele D'Amico, Olimpia Musumeci, Antonio Toscano, Claudio Bruno, Roberto Massa, Corrado Angelini, Enrico Bertini, Giovanni Antonini, Elena Maria Pennisi
Neutral lipid storage disease (NLSD) is a rare inherited disorder of lipid metabolism resulting in lipid droplets accumulation in different tissues. Skeletal muscle could be affected in both two different form of disease: NLSD with myopathy (NLSD-M) and NLSD with ichthyosis (NLSD-I). We present the muscle imaging data of 12 patients from the Italian Network for NLSD: ten patients presenting NLSD-M and two patients with NLSD-I. In NLSD-M gluteus minimus, semimembranosus, soleus and gastrocnemius medialis in the lower limbs and infraspinatus in the upper limbs were the most affected muscles...
July 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28499397/neutral-lipid-storage-diseases-clinical-genetic-features-and-natural-history-in-a-large-cohort-of-italian-patients
#7
Elena Maria Pennisi, Marcello Arca, Enrico Bertini, Claudio Bruno, Denise Cassandrini, Adele D'amico, Matteo Garibaldi, Francesca Gragnani, Lorenzo Maggi, Roberto Massa, Sara Missaglia, Lucia Morandi, Olimpia Musumeci, Elena Pegoraro, Emanuele Rastelli, Filippo Maria Santorelli, Elisabetta Tasca, Daniela Tavian, Antonio Toscano, Corrado Angelini
BACKGROUND: A small number of patients affected by Neutral Lipid Storage Diseases (NLSDs: NLSD type M with Myopathy and NLSD type I with Ichthyosis) have been described in various ethnic groups worldwide. However, relatively little is known about the progression and phenotypic variability of the disease in large specific populations. The aim of our study was to assess the natural history, disability and genotype-phenotype correlations in Italian patients with NLSDs. Twenty-one patients who satisfied the criteria for NLSDs were enrolled in a retrospective cross-sectional study to evaluate the genetic aspects, clinical signs at onset, disability progression and comorbidities associated with this group of diseases...
May 12, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28391974/generation-of-induced-pluripotent-stem-cells-as-disease-modelling-of-nlsdm
#8
D Tavian, S Missaglia, M Castagnetta, D Degiorgio, E M Pennisi, R A Coleman, P Dell'Era, C Mora, C Angelini, D A Coviello
Neutral Lipid Storage Disease with Myopathy (NLSDM) is a rare defect of triacylglycerol metabolism, characterized by the abnormal storage of neutral lipid in organelles known as lipid droplets (LDs). The main clinical features are progressive myopathy and cardiomyopathy. The onset of NLSDM is caused by autosomal recessive mutations in the PNPLA2 gene, which encodes adipose triglyceride lipase (ATGL). Despite its name, this enzyme is present in a wide variety of cell types and catalyzes the first step in triacylglycerol lipolysis and the release of fatty acids...
May 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28258942/late-onset-of-neutral-lipid-storage-disease-due-to-novel-pnpla2-mutations-causing-total-loss-of-lipase-activity-in-a-patient-with-myopathy-and-slight-cardiac-involvement
#9
Sara Missaglia, Lorenzo Maggi, Marina Mora, Sara Gibertini, Flavia Blasevich, Piergiuseppe Agostoni, Laura Moro, Denise Cassandrini, Filippo Maria Santorelli, Simonetta Gerevini, Daniela Tavian
Neutral lipid storage disease with myopathy (NLSDM) presents with skeletal muscle myopathy and severe dilated cardiomyopathy in nearly 40% of cases. NLSDM is caused by mutations in the PNPLA2 gene, which encodes the adipose triglyceride lipase (ATGL). Here we report clinical and genetic findings of a patient carrying two novel PNPLA2 mutations (c.696+4A>G and c.553_565delGTCCCCCTTCTCG). She presented at age 39 with right upper limb abduction weakness slowly progressing over the years with asymmetric involvement of proximal upper and lower limb muscles...
May 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27896096/peripheral-leukocyte-anomaly-detected-with-routine-automated-hematology-analyzer-sensitive-to-adipose-triglyceride-lipase-deficiency-manifesting-neutral-lipid-storage-disease-with-myopathy-triglyceride-deposit-cardiomyovasculopathy
#10
Akira Suzuki, Hironori Nagasaka, Yasuhiro Ochi, Kazuhiro Kobayashi, Hiroshi Nakamura, Daisaku Nakatani, Satoshi Yamaguchi, Shinobu Yamaki, Atsushi Wada, Yoshihisa Shirata, Shu-Ping Hui, Tatsushi Toda, Hiroshi Kuroda, Hitoshi Chiba, Ken-Ichi Hirano
Adipose triglyceride lipase (ATGL) deficiency manifesting neutral lipid storage disease with myopathy/triglyceride deposit cardiomyovasculopathy presents distinct fat-containing vacuoles known as Jordans' anomaly in peripheral leucocytes. To develop an automatic notification system for Jordans' anomaly in ATGL-deficient patients, we analyzed circulatory leukocyte scattergrams on automated hematology analyzer XE-5000. The BASO-WX and BASO-WY values were found to be significantly higher in patients than those in non-affected subjects...
2014: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27428459/analysis-of-lipid-profile-in-lipid-storage-myopathy
#11
M'hammed Aguennouz, Marco Beccaria, Giorgia Purcaro, Marianna Oteri, Giuseppe Micalizzi, Olimpia Musumesci, Annmaria Ciranni, Rosa Maria Di Giorgio, Antonio Toscano, Paola Dugo, Luigi Mondello
Lipid dysmetabolism disease is a condition in which lipids are stored abnormally in organs and tissues throughout the body, causing muscle weakness (myopathy). Usually, the diagnosis of this disease and its characterization goes through dosage of Acyl CoA in plasma accompanied with evidence of droplets of intra-fibrils lipids in the patient muscle biopsy. However, to understand the pathophysiological mechanisms of lipid storage diseases, it is useful to identify the nature of lipids deposited in muscle fiber...
September 1, 2016: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
https://www.readbyqxmd.com/read/26600210/neutral-lipid-storage-disease-with-myopathy-and-extended-phenotype-with-novel-pnpla2-mutation
#12
REVIEW
Roberto Massa, Simone Pozzessere, Emanuele Rastelli, Laura Serra, Chiara Terracciano, Manuela Gibellini, Marco Bozzali, Marcello Arca
INTRODUCTION: Neutral lipid-storage disease with myopathy is caused by mutations in PNPLA2, which produce skeletal and cardiac myopathy. We report a man with multiorgan neutral lipid storage and unusual multisystem clinical involvement, including cognitive impairment. METHODS: Quantitative brain MRI with voxel-based morphometry and extended neuropsychological assessment were performed. In parallel, the coding sequences and intron/exon boundaries of the PNPLA2 gene were screened by direct sequencing...
April 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/26508640/hypophagia-and-metabolic-adaptations-in-mice-with-defective-atgl-mediated-lipolysis-cause-resistance-to-hfd-induced-obesity
#13
Renate Schreiber, Peter Hofer, Ulrike Taschler, Peter J Voshol, Gerald N Rechberger, Petra Kotzbeck, Doris Jaeger, Karina Preiss-Landl, Caleb C Lord, J Mark Brown, Guenter Haemmerle, Robert Zimmermann, Antonio Vidal-Puig, Rudolf Zechner
Adipose triglyceride lipase (ATGL) initiates intracellular triglyceride (TG) catabolism. In humans, ATGL deficiency causes neutral lipid storage disease with myopathy (NLSDM) characterized by a systemic TG accumulation. Mice with a genetic deletion of ATGL (AKO) also accumulate TG in many tissues. However, neither NLSDM patients nor AKO mice are exceedingly obese. This phenotype is unexpected considering the importance of the enzyme for TG catabolism in white adipose tissue (WAT). In this study, we identified the counteracting mechanisms that prevent excessive obesity in the absence of ATGL...
November 10, 2015: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/25956450/novel-missense-mutations-in-pnpla2-causing-late-onset-and-clinical-heterogeneity-of-neutral-lipid-storage-disease-with-myopathy-in-three-siblings
#14
Sara Missaglia, Elisabetta Tasca, Corrado Angelini, Laura Moro, Daniela Tavian
Neutral lipid storage disease with myopathy (NLSD-M) is a rare autosomal recessive disorder characterised by an abnormal accumulation of triacylglycerol into cytoplasmic lipid droplets (LDs). NLSD-M patients are mainly affected by progressive myopathy, cardiomyopathy and hepatomegaly. Mutations in the PNPLA2 gene cause variable phenotypes of NLSD-M. PNPLA2 codes for adipose triglyceride lipase (ATGL), an enzyme that hydrolyses fatty acids from triacylglycerol. This report outlines the clinical and genetic findings in a NLSD-M Italian family with three affected members...
June 2015: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/25556768/fulminant-lipid-storage-myopathy-due-to-multiple-acyl-coenzyme-a-dehydrogenase-deficiency
#15
Charles H Whitaker, Kevin J Felice, David Silvers, Qian Wu
INTRODUCTION: The lipid storage myopathies, primary carnitine deficiency, neutral lipid storage disease, and multiple acyl coenzyme A dehydrogenase deficiency (MADD), are progressive disorders that cause permanent weakness. These disorders of fatty acid metabolism and intracellular triglyceride degradation cause marked fat deposition and damage to muscle cells. METHODS: We describe a rapidly progressive myopathy in a previously healthy 33-year-old woman. Over 4 months, she developed a proximal and axial myopathy associated with diffuse myalgia and dysphagia, ultimately leading to respiratory failure and death...
August 2015: Muscle & Nerve
https://www.readbyqxmd.com/read/25512002/loss-of-function-variants-in-human-pnpla8-encoding-calcium-independent-phospholipase-a2-%C3%AE-recapitulate-the-mitochondriopathy-of-the-homologous-null-mouse
#16
Carol J Saunders, Sung Ho Moon, Xinping Liu, Isabelle Thiffault, Keith Coffman, Jean-Baptiste LePichon, Eugenio Taboada, Laurie D Smith, Emily G Farrow, Neil Miller, Margaret Gibson, Melanie Patterson, Stephen F Kingsmore, Richard W Gross
Mitochondriopathies are a group of clinically heterogeneous genetic diseases caused by defects in mitochondrial metabolism, bioenergetic efficiency, and/or signaling functions. The large majority of proteins involved in mitochondrial function are encoded by nuclear genes, with many yet to be associated with human disease. We performed exome sequencing on a young girl with a suspected mitochondrial myopathy that manifested as progressive muscle weakness, hypotonia, seizures, poor weight gain, and lactic acidosis...
March 2015: Human Mutation
https://www.readbyqxmd.com/read/25363365/muscle-mri-in-neutral-lipid-storage-disease-with-myopathy-carrying-mutation-c-187-1g-a
#17
Chunxiao Xu, Yawen Zhao, Jing Liu, Wei Zhang, Zhaoxia Wang, Yun Yuan
INTRODUCTION: We describe the clinical and muscle MRI changes in 2 siblings with neutral lipid storage disease with myopathy (NLSDM) carrying the mutation c.187+1G>A. METHODS: Peripheral blood smears, genetic tests, and muscle biopsies were performed. Thigh MRI was performed to observe fatty replacement, muscle edema, and muscle bulk from axial sections. RESULTS: Both siblings had similar fatty infiltration and edema. T1-weighted images of the gluteus maximus, adductor magnus, semitendinosus, and semimembranosus revealed marked and diffuse fatty infiltration...
June 2015: Muscle & Nerve
https://www.readbyqxmd.com/read/25300978/inborn-errors-of-cytoplasmic-triglyceride-metabolism
#18
REVIEW
Jiang Wei Wu, Hao Yang, Shu Pei Wang, Krishnakant G Soni, Catherine Brunel-Guitton, Grant A Mitchell
Triglyceride (TG) synthesis, storage, and degradation together constitute cytoplasmic TG metabolism (CTGM). CTGM is mostly studied in adipocytes, where starting from glycerol-3-phosphate and fatty acyl (FA)-coenzyme A (CoA), TGs are synthesized then stored in cytoplasmic lipid droplets. TG hydrolysis proceeds sequentially, producing FAs and glycerol. Several reactions of CTGM can be catalyzed by more than one enzyme, creating great potential for complex tissue-specific physiology. In adipose tissue, CTGM provides FA as a systemic energy source during fasting and is related to obesity...
January 2015: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/25287355/a-myopathy-with-unusual-features-caused-by-pnpla2-gene-mutations
#19
Elena M Pennisi, Sara Missaglia, Salvatore Dimauro, Cinzia Bernardi, Hasan Orhan Akman, Daniela Tavian
INTRODUCTION: The PNPLA2 gene encodes the enzyme adipose triglyceride lipase (ATGL), which catalyzes the first step of triglyceride hydrolysis. Mutations in this gene are associated with an autosomal recessive lipid-storage myopathy, neutral lipid-storage disease with myopathy (NLSD-M). RESULTS: A 72-year-old woman had late-onset myopathy, with mild weakness, cramps, and exercise intolerance. Electromyography showed myotonic discharges. A few leukocytes showed lipid droplets (Jordan anomaly)...
April 2015: Muscle & Nerve
https://www.readbyqxmd.com/read/24997454/spectrum-of-metabolic-myopathies
#20
REVIEW
Corrado Angelini
Metabolic myopathies are disorders of utilization of carbohydrates or fat in muscles. The acute nature of energy failure is manifested either by a metabolic crisis with weakness, sometimes associated with respiratory failure, or by myoglobinuria. A typical disorder where permanent weakness occurs is glycogenosis type II (GSDII or Pompe disease) both in infantile and late-onset forms, where respiratory insufficiency is manifested by a large number of cases. In GSDII the pathogenetic mechanism is still poorly understood, and has to be attributed more to structural muscle alterations, possibly in correlation to macro-autophagy, rather than to energetic failure...
April 2015: Biochimica et Biophysica Acta
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