Current Strategies for the Biochemical Diagnosis and Monitoring of Mitochondrial Disease
Mitochondrial disease constitutes a complex and heterogeneous group of disorders resulting from a defect in mitochondrial respiratory chain (MRC) enzyme activity. In view of the dual regulation of the MRC, exercised by both the mitochondrial and nuclear genome, mutations in either mitochondrial or n...
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| Aineistotyyppi: | Online |
| Kieli: | englanti |
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MDPI - Multidisciplinary Digital Publishing Institute
2021
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| Aiheet: | |
| Linkit: | 29128 |
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| _version_ | 1869518391252877312 |
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| author | Iain P. Hargreaves (Ed.) |
| author_browse | Iain P. Hargreaves (Ed.) |
| author_facet | Iain P. Hargreaves (Ed.) |
| author_sort | Iain P. Hargreaves (Ed.) |
| collection | Directory of Open Access Books |
| description | Mitochondrial disease constitutes a complex and heterogeneous group of disorders resulting from a defect in mitochondrial respiratory chain (MRC) enzyme activity. In view of the dual regulation of the MRC, exercised by both the mitochondrial and nuclear genome, mutations in either mitochondrial or nuclear DNA can result in a MRC deficiency. Whilst a single organ can be affected, MRC disorders often result in a multi-organ system presentation with prominent neurological and myopathic features. The diagnosis of MRC disorders can be complex, and requires a coordinated interplay of a number of disciplines. However, biochemical determination of metabolites in blood, cerebral spinal fluid (CSF) and/or urine are generally considered to be first-line investigations for the diagnosis of these disorders, although they lack sensitivity and specificity. Furthermore, there is a lack of consensus on the overall utility of monitoring other biochemical parameters, which may be of diagnostic value. For example, although oxidative stress may contribute to the pathogenesis of mitochondrial disorders, few centers monitor this as part of their diagnostic repertoire. Therefore, the purpose of this Special Issue was to highlight potential biomarkers of mitochondrial disease and to discuss the appropriateness of biochemical markers to monitor disease progression and therapeutic intervention. |
| format | Online |
| id | doab-20.500.12854ir-44427 |
| institution | Directory of Open Access Books |
| language | eng |
| publishDate | 2021 |
| publishDateRange | 2021 |
| publishDateSort | 2021 |
| publisher | MDPI - Multidisciplinary Digital Publishing Institute |
| publisherStr | MDPI - Multidisciplinary Digital Publishing Institute |
| record_format | ojs |
| spelling | doab-20.500.12854ir-444272024-03-30T23:22:18Z Current Strategies for the Biochemical Diagnosis and Monitoring of Mitochondrial Disease Iain P. Hargreaves (Ed.) R5-920 RA1-1270 RM1-950 biomarks diagnosis mitochondrial respiratory chain (MRC) mitochondrial disorders biochemical parameters/markers oxidative stress thema EDItEUR::M Medicine and Nursing Mitochondrial disease constitutes a complex and heterogeneous group of disorders resulting from a defect in mitochondrial respiratory chain (MRC) enzyme activity. In view of the dual regulation of the MRC, exercised by both the mitochondrial and nuclear genome, mutations in either mitochondrial or nuclear DNA can result in a MRC deficiency. Whilst a single organ can be affected, MRC disorders often result in a multi-organ system presentation with prominent neurological and myopathic features. The diagnosis of MRC disorders can be complex, and requires a coordinated interplay of a number of disciplines. However, biochemical determination of metabolites in blood, cerebral spinal fluid (CSF) and/or urine are generally considered to be first-line investigations for the diagnosis of these disorders, although they lack sensitivity and specificity. Furthermore, there is a lack of consensus on the overall utility of monitoring other biochemical parameters, which may be of diagnostic value. For example, although oxidative stress may contribute to the pathogenesis of mitochondrial disorders, few centers monitor this as part of their diagnostic repertoire. Therefore, the purpose of this Special Issue was to highlight potential biomarkers of mitochondrial disease and to discuss the appropriateness of biochemical markers to monitor disease progression and therapeutic intervention. 2021-02-11T10:53:36Z 2021-02-11T10:53:36Z 2018-10-16 10:00:26 2018 book 29128 9783038972419 9783038972402 https://directory.doabooks.org/handle/20.500.12854/44427 eng image/jpeg Attribution-NonCommercial-NoDerivatives 4.0 International https://www.mdpi.com/books/pdfview/book/782 https://play.google.com/books/publish/a/14935057684283403269#details/ISBN:9783038972402 https://www.mdpi.com/books/pdfview/book/782 MDPI - Multidisciplinary Digital Publishing Institute 10.3390/books978-3-03897-241-9 10.3390/books978-3-03897-241-9 46cabcaa-dd94-4bfe-87b4-55023c1b36d0 9783038972419 9783038972402 238 open access |
| spellingShingle | R5-920 RA1-1270 RM1-950 biomarks diagnosis mitochondrial respiratory chain (MRC) mitochondrial disorders biochemical parameters/markers oxidative stress thema EDItEUR::M Medicine and Nursing Iain P. Hargreaves (Ed.) Current Strategies for the Biochemical Diagnosis and Monitoring of Mitochondrial Disease |
| title | Current Strategies for the Biochemical Diagnosis and Monitoring of Mitochondrial Disease |
| title_full | Current Strategies for the Biochemical Diagnosis and Monitoring of Mitochondrial Disease |
| title_fullStr | Current Strategies for the Biochemical Diagnosis and Monitoring of Mitochondrial Disease |
| title_full_unstemmed | Current Strategies for the Biochemical Diagnosis and Monitoring of Mitochondrial Disease |
| title_short | Current Strategies for the Biochemical Diagnosis and Monitoring of Mitochondrial Disease |
| title_sort | current strategies for the biochemical diagnosis and monitoring of mitochondrial disease |
| topic | R5-920 RA1-1270 RM1-950 biomarks diagnosis mitochondrial respiratory chain (MRC) mitochondrial disorders biochemical parameters/markers oxidative stress thema EDItEUR::M Medicine and Nursing |
| topic_facet | R5-920 RA1-1270 RM1-950 biomarks diagnosis mitochondrial respiratory chain (MRC) mitochondrial disorders biochemical parameters/markers oxidative stress thema EDItEUR::M Medicine and Nursing |
| url | 29128 |
| work_keys_str_mv | AT iainphargreavesed currentstrategiesforthebiochemicaldiagnosisandmonitoringofmitochondrialdisease |