No cardiomyopathy in X-linked myopathy with excessive autophagy
| Autor: | Bjarne Udd, Hannu Kalimo, Juhani Airaksinen, Nivetha Ramachandran, Berge A. Minassian, I. Munteanu, Antti Saraste, Juha Koskenvuo, Sanna Huovinen |
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| Rok vydání: | 2015 |
| Předmět: |
Adult
Male Vacuolar Proton-Translocating ATPases medicine.medical_specialty Pathology Cardiomyopathy Biology Electrocardiography X-linked myopathy with excessive autophagy Atrophy Muscular Diseases Internal medicine Autophagy medicine Humans Danon disease Muscle Skeletal Myopathy Genetics (clinical) Ejection fraction Cardiac muscle Skeletal muscle ta3121 Middle Aged medicine.disease 3. Good health medicine.anatomical_structure Endocrinology Neurology Mutation Vacuoles Pediatrics Perinatology and Child Health Neurology (clinical) medicine.symptom Cardiomyopathies |
| Zdroj: | Neuromuscular Disorders. 25:485-487 |
| ISSN: | 0960-8966 |
| Popis: | In X-linked myopathy with excessive autophagy (XMEA) progressive sarcoplasmic accumulation of autolysosomes filled with undegraded debris leads to atrophy and weakness of skeletal muscles. XMEA is caused by compromised acidification of lysosomes resulting from hypofunction of the proton pump vacuolar ATPase (V-ATPase), due to hypomorphic mutations in VMA21, whose protein product assembles V-ATPase. To what extent the cardiac muscle is affected is unknown. Therefore we performed a comprehensive cardiac evaluation in four male XMEA patients, and also examined pathology of one deceased patient's cardiac and skeletal muscle. None of the symptomatic men (aged 25–48 years) had history or symptoms of cardiomyopathy. Resting electrocardiograms and echocardiographies were normal. MRI showed normal left ventricle ejection fraction and myocardial mass. Myocardial late-gadolinium enhancement was not detected. The deceased patient's skeletal but not cardiac muscle showed characteristic accumulation of autophagic vacuoles. In conclusion, in classic XMEA the myocardium is structurally, electrically and clinically spared. |
| Databáze: | OpenAIRE |
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