Epidemiology of Pediatric Mitochondrial Respiratory Chain Disorders in Northwest Spain

2006 ◽  
Vol 34 (3) ◽  
pp. 204-211 ◽  
Author(s):  
Manuel Castro-Gago ◽  
Manuel O. Blanco-Barca ◽  
Yolanda Campos-González ◽  
Joaquín Arenas-Barbero ◽  
Elena Pintos-Martínez ◽  
...  
Keyword(s):  
Respiratory Chain ◽  
Mitochondrial Respiratory Chain ◽  
Respiratory Chain Disorders ◽  
Mitochondrial Respiratory

Biochemical and molecular aspects of human mitochondrial respiratory chain disorders

1990 ◽  
Vol 18 (4) ◽  
pp. 517-519 ◽  
Author(s):  
J. MARK COOPER ◽  
ANTHONY H. V. SCHAPIRA ◽  
IAN J. HOLT ◽  
ANTONIO TOSCANO ◽  
ANITA E. HARDING ◽  
...  
Keyword(s):  
Respiratory Chain ◽  
Mitochondrial Respiratory Chain ◽  
Molecular Aspects ◽  
Respiratory Chain Disorders ◽  
Mitochondrial Respiratory

scholarly journals Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders

2004 ◽  
Vol 1659 (2-3) ◽  
pp. 121-128 ◽  
Author(s):  
David R. Thorburn ◽  
Canny Sugiana ◽  
Renato Salemi ◽  
Denise M. Kirby ◽  
Lisa Worgan ◽  
...  
Keyword(s):  
Respiratory Chain ◽  
Molecular Diagnosis ◽  
Mitochondrial Respiratory Chain ◽  
Respiratory Chain Disorders ◽  
Mitochondrial Respiratory

Advanced pathological study for definite diagnosis of mitochondrial cardiomyopathy

2020 ◽  
pp. jclinpath-2020-206801
Author(s):  
Atsuhito Takeda ◽  
Kei Murayama ◽  
Yasushi Okazaki ◽  
Atsuko Imai-Okazaki ◽  
Akira Ohtake ◽  
...  
Keyword(s):  
Electron Microscopy ◽  
Quantitative Analysis ◽  
Diagnostic Criteria ◽  
Respiratory Chain ◽  
Mitochondrial Respiratory Chain ◽  
Definite Diagnosis ◽  
Respiratory Chain Enzyme ◽  
Mitochondrial Cardiomyopathy ◽  
Respiratory Chain Disorders ◽  
Mitochondrial Respiratory

AimsMitochondrial cardiomyopathy (MCM) is difficult to make a definite diagnosis because of various cardiovascular phenotypes and no diagnostic criteria in the pathology examination. We aim to add myocardial pathology to the diagnostic criteria for mitochondrial respiratory chain disorders.MethodsQuantitative analysis of mitochondria using electron microscopy and immunohistopathological analysis with respiratory chain enzyme antibodies were performed in 11 patients with hypertrophic or restrictive cardiomyopathy who underwent endomyocardial biopsy for possible MCM . Respiratory chain enzymatic assay in biopsied myocardium and genetic studies were also performed in all the subjects to define MCM.ResultsFour patients were diagnosed with MCM according to the recent criteria of mitochondrial respiratory chain disorders. Using electron microscopy with quantitative analysis, the volume density of mitochondria within cardiac muscle cells was significantly increased in the MCM group compared with the non-MCM group (p=0.007). Immunohistopathological results were compatible with the result of the respiratory chain enzymatic assay.ConclusionsPathological diagnosis of MCM could be confirmed by a quantitative study of electron microscopy and immunohistopathological analysis using the mitochondrial respiratory chain enzyme subunit antibody.

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