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Diagnostic Approach to Mitochondrial Diseases

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Book cover Diagnosis and Management of Mitochondrial Disorders

Abstract

The diagnosis of mitochondrial diseases is not straightforward and involves the interaction between clinicians, radiologists and laboratory scientists. Over the past years, the development of novel diagnostic techniques and our growing understanding of mitochondrial pathophysiology have altered the clinical diagnostic approach in suspected mitochondrial cases. With the increased availability of next-generation sequencing, including targeted panels, whole-exome sequencing (WES) and whole-genome sequencing (WGS), most diagnostic centres have changed their diagnostic strategy in suspected mitochondrial disease. While over the past 20 years the muscle biopsy played a central role and guided the diagnostic process, in recent years, massively parallel sequencing (MPS) has become more and more popular as a first-line diagnostic test. An unbiased genetic approach enables the diagnosis of novel genes and overlapping phenotypes with a potentially treatable secondary mitochondrial defect and also facilitates the enrolment of patients into clinical trials which require molecular confirmation of mitochondrial disease. Biochemical investigations remain important for the investigation of cases that cannot be solved using a first-line genetic approach, including the functional validation of novel genetic findings. However, their role will become less important as we increase our understanding of the genetic basis of mitochondrial disorders.

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Author information

Authors and Affiliations

  1. John Van Geest Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK

    Rita Horvath

  2. MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK

    Patrick F. Chinnery

Authors
  1. Rita Horvath
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  2. Patrick F. Chinnery
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Correspondence to Rita Horvath .

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Editors and Affiliations

  1. Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy

    Michelangelo Mancuso

  2. Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Munich, Germany

    Thomas Klopstock

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Horvath, R., Chinnery, P.F. (2019). Diagnostic Approach to Mitochondrial Diseases. In: Mancuso, M., Klopstock, T. (eds) Diagnosis and Management of Mitochondrial Disorders. Springer, Cham. https://doi.org/10.1007/978-3-030-05517-2_17

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  • DOI: https://doi.org/10.1007/978-3-030-05517-2_17

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-05516-5

  • Online ISBN: 978-3-030-05517-2

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