Manifesting heterozygotes in McArdle disease
| Autor: | Alejandro Lucia, Carlos Rodriguez-Lopez, Ignacio Ara, Alejandro Santos-Lozano, Alfredo Santalla, Ian Linares-Pardo, Emma Koehorst, Gisela Nogales-Gadea, Alba Ramos-Fransi, Daniëlle Coenen, Miriam Almendrote, Judit Núñez-Manchón, Miguel A. Martín, Guillem Pintos-Morell, Alfonsina Ballester-Lopez, Joaquín Arenas, Giuseppe Lucente, Alicia Martínez-Piñeiro, Mauricio de Castro, Jaume Coll-Cantí |
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| Přispěvatelé: | Promovendi CD, Biochemie, RS: CARIM - R1.03 - Cell biochemistry of thrombosis and haemostasis |
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
Male
0301 basic medicine myalgia Second wind Genética humana 0302 clinical medicine Genetics (clinical) Aged 80 and over PAIN WINGATE ANAEROBIC TEST Middle Aged RELIABILITY Glycogen Phosphorylase Muscle Form Female medicine.symptom Adult Heterozygote medicine.medical_specialty Weakness McArdle disease Statin medicine.drug_class Investigación médica Young Adult 03 medical and health sciences Glycogen phosphorylase Internal medicine Genetics medicine Humans Family Genetic Testing Lactic Acid Allele Muscle Skeletal PYGM MUTATIONS Aged Wingate test business.industry Heterozygote advantage Myalgia GENE 030104 developmental biology Mutation Exercise Test Glycogen Storage Disease Type V UPDATE Hydroxymethylglutaryl-CoA Reductase Inhibitors business 030217 neurology & neurosurgery |
| Zdroj: | Journal of Inherited Metabolic Disease r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol instname Journal of Inherited Metabolic Disease, 41(6), 1027-1035. Wiley |
| ISSN: | 1573-2665 0141-8955 |
| Popis: | McArdle disease is an autosomal recessive condition caused by deficiency of the PYGM gene-encoded muscle isoform of glycogen phosphorylase. Some cases of “manifesting” heterozygotes or carriers (i.e., patients who show some McArdle-like symptoms or signs despite being carriers of only one mutated PYGM allele) have been reported in the literature but there is controversy, with misdiagnosis being a possibility. The purpose of our study was to determine if there are actually “manifesting” heterozygotes of McArdle disease and, if existing, whether statin treatment can trigger such condition. Eighty-one relatives of McArdle patients (among a total of 16 different families) were studied. We determined whether they were carriers of PYGM mutations and also collected information on exercise tests (second wind and modified Wingate anaerobic test) and statin intake. We found 50 carriers and 31 non-carriers of PYGM mutations. Although we found existence of heterozygotes manifesting some exercise-related muscle problems such as exacerbated myalgia or weakness, they only accounted for 14% of the carriers and muscle symptoms were milder than those commonly reported in patients. Further, no carrier (whether reporting symptoms or not) showed the second wind phenomenon or a flat blood lactate response to maximal-intensity exercise, both of which are hallmarks of McArdle disease. On the other hand, statin myotoxicity was not associated with muscle symptom onset. © 2018 SSIEM Sin financiación 4.287 JCR (2018) Q1, 36/174 Genetics & Heredity, 33/145 Endocrinology & Metabolism; Q2, 38/136 Medicine, Research & Experimental, 1.560 SJR (2018) Q1, 83/351 Genetics; Q2, 30/102 Genetics (clinical) No data IDR 2018 UEM |
| Databáze: | OpenAIRE |
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