Importance of muscle light microscopic mitochondrial subsarcolemmal aggregates in the diagnosis of respiratory chain deficiency

Miles, Lili; Miles, Michael V.; Horn, Paul S.; deGrauw, Ton J.; Wong, Brenda; Bove, Kevin E.

doi:10.1016/j.humpath.2011.09.016

Cited by 8 publications

(3 citation statements)

References 35 publications

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“…A large-scale retrospective study evaluating factors associated with SSMA in paediatric biopsies with suspected mtD found an inverse relationship between the percentage of myofibres with SSMA and RCE deficiency. Patients with low %SSMA (≤4%) were significantly more likely to develop RCE deficiency than patients with higher %SSMA (≥10%) 153 . However, it is important to note that the morphology of mitochondrial networks changes from birth to adolescence and SSMAs appear to develop over time even in biopsies from patients in whom a primary neuromuscular disease has been excluded.…”

Section: Myopathology Of Paediatric Mtdmentioning

confidence: 90%

Pathology of Adult and Paediatric Mitochondrial Myopathies

Phadke¹

2017

Preprint

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Mitochondria are dynamic organelles ubiquitously present in nucleated eukaryotic cells, subserving multiple metabolic functions, including cellular ATP generation by oxidative phosphorylation (OXPHOS). The OXPHOS machinery comprises five transmembrane respiratory chain enzyme complexes (RC). Defective OXPHOS gives rise to mitochondrial diseases (mtD). The incredible phenotypic and genetic diversity of mtD can be attributed at least in part to the RC dual genetic control (nuclear DNA [nDNA] and mitochondrial DNA [mtDNA]) and the complex interaction between the two genomes. Despite the increasing use of next-generation-sequencing (NGS) and various -omics platforms in unraveling novel mtD genes and pathomechanisms, current clinical practice for investigating mtD essentially involves a multipronged approach including clinical assessment, metabolic screening, imaging, pathological, biochemical and functional testing to guide molecular genetic analysis. This review addresses the broad muscle pathology landscape including genotype-phenotype correlations in adult and paediatric mtD, the role of immunodiagnostics in understanding some of the pathomechanisms underpinning the canonical features of mtD, and recent diagnostic advances in the field.

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Section: Myopathology Of Paediatric Mtdmentioning

confidence: 90%

Pathology of Adult and Paediatric Mitochondrial Myopathies

Phadke¹

2017

Preprint

View full text Add to dashboard Cite

show abstract

“…A large-scale retrospective study evaluating factors associated with SSMA in paediatric biopsies with suspected mtD found an inverse relationship between the percentage of myofibres with SSMA and RCE deficiency. Patients with low %SSMA (≤4%) were significantly more likely to develop RCE deficiency than patients with higher %SSMA (≥10%) [ 166 ]. However, it is important to note that the morphology of mitochondrial networks changes from birth to adolescence and SSMAs appear to develop over time, even in biopsies from patients in whom a primary neuromuscular disease has been excluded.…”

Section: Myopathology Of Paediatric Mtdmentioning

confidence: 99%

Myopathology of Adult and Paediatric Mitochondrial Diseases

Phadke

2017

JCM

View full text Add to dashboard Cite

Mitochondria are dynamic organelles ubiquitously present in nucleated eukaryotic cells, subserving multiple metabolic functions, including cellular ATP generation by oxidative phosphorylation (OXPHOS). The OXPHOS machinery comprises five transmembrane respiratory chain enzyme complexes (RC). Defective OXPHOS gives rise to mitochondrial diseases (mtD). The incredible phenotypic and genetic diversity of mtD can be attributed at least in part to the RC dual genetic control (nuclear DNA (nDNA) and mitochondrial DNA (mtDNA)) and the complex interaction between the two genomes. Despite the increasing use of next-generation-sequencing (NGS) and various omics platforms in unravelling novel mtD genes and pathomechanisms, current clinical practice for investigating mtD essentially involves a multipronged approach including clinical assessment, metabolic screening, imaging, pathological, biochemical and functional testing to guide molecular genetic analysis. This review addresses the broad muscle pathology landscape including genotype–phenotype correlations in adult and paediatric mtD, the role of immunodiagnostics in understanding some of the pathomechanisms underpinning the canonical features of mtD, and recent diagnostic advances in the field.

show abstract

“…56,57 Vascular endothelial cells of the brain, as well as in muscle, often are severely involved and contribute to encephalopathy, particularly in infantile mitochondrial diseases. 56,57 Vascular endothelial cells of the brain, as well as in muscle, often are severely involved and contribute to encephalopathy, particularly in infantile mitochondrial diseases.…”

Section: Mitochondrial Cytopathiesmentioning

confidence: 99%