Tubular aggregates and cylindrical spirals have distinct immunohistochemical signatures
| Autor: | Michael G. Hanna, Caroline Sewry, Matt Parton, Janice L. Holton, Elizabeth Curtis, David Beeson, Qiang Gang, Ros Quinlivan, Stefen Brady, Safa Al-Sarraj, Saiju Jacob, Estelle Healy, Henry Houlden |
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| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
Adult
Male 0301 basic medicine Pathology medicine.medical_specialty Adolescent Muscle Fibers Skeletal N-Acetylglucosaminyltransferases Histochemical staining Tubular aggregates Pathology and Forensic Medicine Dysferlin Young Adult 03 medical and health sciences Cellular and Molecular Neuroscience 0302 clinical medicine Muscular Diseases medicine Humans Muscle Skeletal Myopathy Glutamine-Fructose-6-Phosphate Transaminase (Isomerizing) biology Chemistry Endoplasmic reticulum Skeletal muscle General Medicine Middle Aged 030104 developmental biology medicine.anatomical_structure Neurology Ultrastructure biology.protein Immunohistochemistry Female Neurology (clinical) medicine.symptom 030217 neurology & neurosurgery Myopathies Structural Congenital |
| Popis: | Tubular aggregates and cylindrical spirals are 2 distinct ultrastructural abnormalities observed in muscle biopsies that have similar histochemical staining characteristics on light microscopy. Both are found in a wide range of disorders. Recently, a number of genetic mutations have been reported in conditions with tubular aggregates in skeletal muscle. It is widely accepted that tubular aggregates arise from the sarcoplasmic reticulum, but the origin of cylindrical spirals has been less clearly defined. We describe the histopathological features of myopathies with tubular aggregates, including a detailed immunohistochemical analysis of congenital myasthenic syndromes with tubular aggregates due to mutations in GFPT1 and DPAGT1, and myopathies with cylindrical spirals. Our findings support the notion that cylindrical spirals, like tubular aggregates, derive primarily from the sarcoplasmic reticulum; however, immunohistochemistry indicates that different molecular components of the sarcoplasmic reticulum may be involved and can be used to distinguish between these different inclusions. The immunohistochemical differences may also help to guide genetic testing. |
| Databáze: | OpenAIRE |
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