Molecular classification of nemaline myopathies: “nontyping” specimens exhibit unique patterns of gene expression
Nemaline myopathy (NM) is a slowly progressive or nonprogressive neuromuscular disorder caused by mutations in genes encoding skeletal muscle sarcomeric thin filament proteins. It is characterized by great heterogeneity at the clinical, histopathological, and genetic level. Although multiple molecul...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2004-04-01
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| Series: | Neurobiology of Disease |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S0969996104000038 |
| _version_ | 1818862621282009088 |
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| author | Despina Sanoudou Leslie A. Frieden Judith N. Haslett Alvin T. Kho Steven A. Greenberg Isaac S. Kohane Louis M. Kunkel Alan H. Beggs |
| author_facet | Despina Sanoudou Leslie A. Frieden Judith N. Haslett Alvin T. Kho Steven A. Greenberg Isaac S. Kohane Louis M. Kunkel Alan H. Beggs |
| author_sort | Despina Sanoudou |
| collection | DOAJ |
| description | Nemaline myopathy (NM) is a slowly progressive or nonprogressive neuromuscular disorder caused by mutations in genes encoding skeletal muscle sarcomeric thin filament proteins. It is characterized by great heterogeneity at the clinical, histopathological, and genetic level. Although multiple molecular pathways are commonly affected in all NM patients, little is known about the molecular characteristics of muscles from patients in different NM subgroups. We have analyzed a group of global gene expression data sets for transcriptional patterns characteristic of particular nemaline myopathy classes. Differential expression between disease subgroups was primarily seen in mitochondrial-, structural-, and transcription-related genes. Multiple lines of evidence support the hypothesis that muscles from cases with “nontyping” NM, although clinically classified as typical NM, share a unique pathophysiological state and are characterized by distinct patterns of gene expression. Determination of the specific molecular differences in NM subgroups may eventually lead to improved prognostic determinations and treatment of these patients. |
| first_indexed | 2024-12-19T10:02:46Z |
| format | Article |
| id | doaj.art-06974fac4e444ec99afa37b26f3c9fa1 |
| institution | Directory Open Access Journal |
| issn | 1095-953X |
| language | English |
| last_indexed | 2024-12-19T10:02:46Z |
| publishDate | 2004-04-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Neurobiology of Disease |
| spelling | doaj.art-06974fac4e444ec99afa37b26f3c9fa12022-12-21T20:26:36ZengElsevierNeurobiology of Disease1095-953X2004-04-01153590600Molecular classification of nemaline myopathies: “nontyping” specimens exhibit unique patterns of gene expressionDespina Sanoudou0Leslie A. Frieden1Judith N. Haslett2Alvin T. Kho3Steven A. Greenberg4Isaac S. Kohane5Louis M. Kunkel6Alan H. Beggs7Genomics Program and Division of Genetics, Children's Hospital Boston, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA; Children's Hospital Informatics Program, Boston, MA 02115, USA; Department of Neurology, Division of Neuromuscular Disease, Brigham and Women's Hospital, Boston, MA 02115, USA; Division of Endocrinology Children's Hospital Boston, Boston, MA 02115, USAGenomics Program and Division of Genetics, Children's Hospital Boston, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA; Children's Hospital Informatics Program, Boston, MA 02115, USA; Department of Neurology, Division of Neuromuscular Disease, Brigham and Women's Hospital, Boston, MA 02115, USA; Division of Endocrinology Children's Hospital Boston, Boston, MA 02115, USAGenomics Program and Division of Genetics, Children's Hospital Boston, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA; Children's Hospital Informatics Program, Boston, MA 02115, USA; Department of Neurology, Division of Neuromuscular Disease, Brigham and Women's Hospital, Boston, MA 02115, USA; Division of Endocrinology Children's Hospital Boston, Boston, MA 02115, USAGenomics Program and Division of Genetics, Children's Hospital Boston, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA; Children's Hospital Informatics Program, Boston, MA 02115, USA; Department of Neurology, Division of Neuromuscular Disease, Brigham and Women's Hospital, Boston, MA 02115, USA; Division of Endocrinology Children's Hospital Boston, Boston, MA 02115, USAGenomics Program and Division of Genetics, Children's Hospital Boston, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA; Children's Hospital Informatics Program, Boston, MA 02115, USA; Department of Neurology, Division of Neuromuscular Disease, Brigham and Women's Hospital, Boston, MA 02115, USA; Division of Endocrinology Children's Hospital Boston, Boston, MA 02115, USAGenomics Program and Division of Genetics, Children's Hospital Boston, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA; Children's Hospital Informatics Program, Boston, MA 02115, USA; Department of Neurology, Division of Neuromuscular Disease, Brigham and Women's Hospital, Boston, MA 02115, USA; Division of Endocrinology Children's Hospital Boston, Boston, MA 02115, USAGenomics Program and Division of Genetics, Children's Hospital Boston, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA; Children's Hospital Informatics Program, Boston, MA 02115, USA; Department of Neurology, Division of Neuromuscular Disease, Brigham and Women's Hospital, Boston, MA 02115, USA; Division of Endocrinology Children's Hospital Boston, Boston, MA 02115, USAGenomics Program and Division of Genetics, Children's Hospital Boston, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA; Children's Hospital Informatics Program, Boston, MA 02115, USA; Department of Neurology, Division of Neuromuscular Disease, Brigham and Women's Hospital, Boston, MA 02115, USA; Division of Endocrinology Children's Hospital Boston, Boston, MA 02115, USANemaline myopathy (NM) is a slowly progressive or nonprogressive neuromuscular disorder caused by mutations in genes encoding skeletal muscle sarcomeric thin filament proteins. It is characterized by great heterogeneity at the clinical, histopathological, and genetic level. Although multiple molecular pathways are commonly affected in all NM patients, little is known about the molecular characteristics of muscles from patients in different NM subgroups. We have analyzed a group of global gene expression data sets for transcriptional patterns characteristic of particular nemaline myopathy classes. Differential expression between disease subgroups was primarily seen in mitochondrial-, structural-, and transcription-related genes. Multiple lines of evidence support the hypothesis that muscles from cases with “nontyping” NM, although clinically classified as typical NM, share a unique pathophysiological state and are characterized by distinct patterns of gene expression. Determination of the specific molecular differences in NM subgroups may eventually lead to improved prognostic determinations and treatment of these patients.http://www.sciencedirect.com/science/article/pii/S0969996104000038MicroarraysNemaline myopathyGene expressionTroponin TSkeletal muscleNeuromuscular disease |
| spellingShingle | Despina Sanoudou Leslie A. Frieden Judith N. Haslett Alvin T. Kho Steven A. Greenberg Isaac S. Kohane Louis M. Kunkel Alan H. Beggs Molecular classification of nemaline myopathies: “nontyping” specimens exhibit unique patterns of gene expression Neurobiology of Disease Microarrays Nemaline myopathy Gene expression Troponin T Skeletal muscle Neuromuscular disease |
| title | Molecular classification of nemaline myopathies: “nontyping” specimens exhibit unique patterns of gene expression |
| title_full | Molecular classification of nemaline myopathies: “nontyping” specimens exhibit unique patterns of gene expression |
| title_fullStr | Molecular classification of nemaline myopathies: “nontyping” specimens exhibit unique patterns of gene expression |
| title_full_unstemmed | Molecular classification of nemaline myopathies: “nontyping” specimens exhibit unique patterns of gene expression |
| title_short | Molecular classification of nemaline myopathies: “nontyping” specimens exhibit unique patterns of gene expression |
| title_sort | molecular classification of nemaline myopathies nontyping specimens exhibit unique patterns of gene expression |
| topic | Microarrays Nemaline myopathy Gene expression Troponin T Skeletal muscle Neuromuscular disease |
| url | http://www.sciencedirect.com/science/article/pii/S0969996104000038 |
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