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Lipid storage myopathy

Irena A Rebalka, Matthew J Raleigh, Laelie A Snook, Alexandra N Rebalka, Rebecca E K MacPherson, David C Wright, Jonathan D Schertzer, Thomas J Hawke
While statins significantly reduce cholesterol levels and thereby reduce the risk of cardiovascular disease, the development of myopathy with statin use is a significant clinical side effect. Recent guidelines recommend increasing inclusion criteria for statin treatment in diabetic individuals; however, the impact of statins on skeletal muscle health in those with diabetes (who already suffer from impairments in muscle health) is ill defined. Here, we investigate the effects of fluvastatin treatment on muscle health in wild type (WT) and streptozotocin (STZ)-induced diabetic mice...
2016: Frontiers in Endocrinology
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
Xin-Yi Liu, Ming Jin, Zhi-Qiang Wang, Dan-Ni Wang, Jun-Jie He, Min-Ting Lin, Hong-Xia Fu, Ning Wang
BACKGROUND: Lipid storage myopathy (LSM) is a genetically heterogeneous group with variable clinical phenotypes. Late-onset multiple acyl-coenzyme A dehydrogenation deficiency (MADD) is a rather common form of LSM in China. Diagnosis and clinical management of it remain challenging, especially without robust muscle biopsy result and genetic detection. As the noninvasion and convenience, muscle magnetic resonance imaging (MRI) is a helpful assistant, diagnostic tool for neuromuscular disorders...
June 20, 2016: Chinese Medical Journal
Corrado Angelini, Anna Chiara Nascimbeni, Giovanna Cenacchi, Elisabetta Tasca
AIMS: Triglycerides droplets are massively stored in muscle in Lipid Storage Myopathies (LSM). We studied in muscle regulators of lipophagy, the expression of the transcription factor-EB (TFEB) (a master regulator of lysosomal biogenesis), and markers of autophagy which are induced by starvation and exert a transcriptional control on lipid catabolism. METHODS: We investigated the factors that regulate lipophagy in muscle biopsies from 6 patients with different types of LSM: 2 cases of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD), 1 case of primary carnitine deficiency (CD), 2 cases of neutral lipid storage myopathy (NLSD-M), 1 case of carnitine-palmitoyl-transferase-II (CPT) deficiency...
July 2016: Biochimica et Biophysica Acta
Hong-Xia Fu, Xin-Yi Liu, Zhi-Qiang Wang, Ming Jin, Dan-Ni Wang, Jun-Jie He, Min-Ting Lin, Ning Wang
Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) with electron transfer flavoprotein dehydrogenase (ETFDH) gene mutations is the most common lipid storage myopathy (LSM) in China. Its clinical features vary widely and pose a challenge for diagnosis. We presented the significant clinical heterogeneity among three Chinese late-onset MADD patients with similar ETFDH genotype by collecting clinical information, muscle histology, and genetic analysis. Three novel compound heterozygous variants of ETFDH gene were identified: c...
July 2016: Neurological Sciences
Xin-Yi Liu, Zhi-Qiang Wang, Dan-Ni Wang, Min-Ting Lin, Ning Wang
BACKGROUND: Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is the most common type of lipid storage myopathies in China. Most patients with late-onset MADD are well responsive to riboflavin. Up to now, these patients are often treated with glucocorticoids as the first-line drug because they are misdiagnosed as polymyositis without muscle biopsy or gene analysis. Although glucocorticoids seem to improve the fatty acid metabolism of late-onset MADD, the objective evaluation of their rationalization on this disorder and comparison with riboflavin treatment are unknown...
January 20, 2016: Chinese Medical Journal
Zhaoxia Wang, Daojun Hong, Wei Zhang, Wurong Li, Xin Shi, Danhua Zhao, Xu Yang, He Lv, Yun Yuan
Multiple Acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder of fatty acid oxidation. Most patients with late-onset MADD are clinically characterized by lipid storage myopathy with dramatic responsiveness to riboflavin treatment. Abnormalities of peripheral neuropathy have rarely been reported in patients with late-onset MADD. We describe six patients who presented with proximal limb weakness and loss of sensation in the distal limbs. Muscle biopsy revealed typical myopathological patterns of lipid storage myopathy and blood acylcarnitine profiles showed a combined elevation of multiple acylcarnitines supporting the diagnosis of MADD...
February 2016: Neuromuscular Disorders: NMD
Vanessa R Biegen, John P McCue, Taryn A Donovan, G Diane Shelton
A 1-year-old spayed female Shih Tzu presented for episodic abnormalities of posture and mentation. Neurological examination was consistent with a bilaterally symmetric multifocal encephalopathy. The dog had a waxing-and-waning hyperlactemia and hypoglycemia. Magnetic resonance imaging revealed bilaterally symmetric cavitated lesions of the caudate nuclei with less severe abnormalities in the cerebellar nuclei. Empirical therapy was unsuccessful, and the patient was euthanized. Post-mortem histopathology revealed bilaterally symmetric necrotic lesions of the caudate and cerebellar nuclei and multi-organ lipid accumulation, including a lipid storage myopathy...
2015: Frontiers in Veterinary Science
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
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
Yuanda Xu, Li Zhou, Weibo Liang, Weiqun He, Xiaoqing Liu, Xiuling Liang, Nanshan Zhong, Yimin Li
Lipid storage myopathy is a metabolic disorder characterized by abnormal lipid accumulation in muscle fibers and progressive muscle weakness. Here, we report the case of a 17-year-old woman with progressive muscle weakness, refractory hyperlactatemia, and multiple organ insufficiency. Severe pneumonia was the initial diagnosis. After anti-infective treatment, fluid resuscitation, and mechanical ventilation, the patient's symptoms improved but hyperlactatemia and muscle weakness persisted. She was empirically treated with carnitine...
August 2015: Archives of Iranian Medicine
Yufen Peng, Min Zhu, Junjun Zheng, Yuanzhao Zhu, Xiaobing Li, Caixia Wei, Daojun Hong
BACKGROUND: Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive inherited disease of metabolic dysfunction clinically characterized by fluctuating proximal muscle weakness, excise intolerance, and dramatic riboflavin responsiveness. Dropped head syndrome can occasionally be observed in some severe patients with late-onset MADD; however, bent spine syndrome as an initial symptom had not been reported in patients with late-onset MADD. CASE PRESENTATION: A 46-year-old man lost the ability to hold his trunk upright, and had difficulty in raising his head, but he had no obvious symptoms of limb weakness...
July 24, 2015: BMC Neurology
Akiko Furuta, Hisae Kikuchi, Hiromi Fujita, Daisuke Yamada, Yuuki Fujiwara, Tomohiro Kabuta, Ichizo Nishino, Keiji Wada, Yasuo Uchiyama
Lysosome-associated membrane protein-2 (LAMP-2) is the gene responsible for Danon disease, which is characterized by cardiomyopathy, autophagic vacuolar myopathy, and variable mental retardation. To elucidate the function of LAMP-2 in the central nervous system, we investigated the neuropathological changes in Lamp-2-deficient mice. Immunohistochemical observations revealed that Lamp-1 and cathepsin D-positive lysosomal structures increased in the large neurons of the mouse brain. Ubiquitin-immunoreactive aggregates and concanavalin A-positive materials were detected in these neurons...
June 2015: American Journal of Pathology
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
Zhihong Zhuo, Peina Jin, Fengyan Li, Haiying Li, Xiaoxin Chen, Huaili Wang
We report a novel mutation in the electron transfer flavoprotein dehydrogenase (EFTDH) gene in an adolescent Chinese patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD) characterized by muscle weakness as early symptom. At the age of 9 years, the patient experienced progressive muscle weakness. Blood creatine kinase level and aminotransferase were higher than normal. The muscle biopsy revealed lipid storage myopathy. Serum acylcarnitine and urine organic acid analyses were consistent with MADD...
2015: Journal of the Neurological Sciences
Michelle Rothaug, Stijn Stroobants, Michaela Schweizer, Judith Peters, Friederike Zunke, Mirka Allerding, Rudi D'Hooge, Paul Saftig, Judith Blanz
The Lysosomal Associated Membrane Protein type-2 (LAMP-2) is an abundant lysosomal membrane protein with an important role in immunity, macroautophagy (MA) and chaperone-mediated autophagy (CMA). Mutations within the Lamp2 gene cause Danon disease, an X-linked lysosomal storage disorder characterized by (cardio)myopathy and intellectual dysfunction. The pathological hallmark of this disease is an accumulation of glycogen and autophagic vacuoles in cardiac and skeletal muscle that, along with the myopathy, is also present in LAMP-2-deficient mice...
2015: Acta Neuropathologica Communications
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
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
Charles D Kassardjian, Xia Tian, Georgirene Vladutiu, Lee-Jun Wong, Margherita Milone
Ranolazine is a medication indicated for treatment of chronic angina and is a partial inhibitor of the fatty acid β-oxidation. We present an adult patient who developed subacute progressive muscle weakness and exercise-induced myalgia, soon after increasing the daily dose of ranolazine, in the setting of therapy with simvastatin. CK persisted normal throughout the duration of the weakness and muscle biopsy showed a lipid storage myopathy for which no underlying genetic defect was identified. Discontinuation of both drugs resulted in clinical improvement...
December 15, 2014: Journal of the Neurological Sciences
Jia Yin, Jiajia Zhu, Dongling Huang, Changzheng Shi, Yuqing Guan, Liang Zhou, Suyue Pan
Vascular and muscular involvements in Graves disease (GD) are rare. Here, we report a case of a 17-year-old patient with unilateral symptomatic middle cerebral artery stenosis concurrent with GD and myopathy. He presented with a 1-day history of acute severe right-sided hemiparesis and aphasia and a 3-week history of high metabolic syndrome. The pathogenesis of the stenosis is most likely vasculitis rather than atherosclerosis, based on contrast-enhanced high-resolution magnetic resonance imaging showing concentric wall enhancement...
January 2015: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
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