A partial deficiency of cytochrome c oxidase in chronic progressive external ophthalmoplegia

Johnson, Margaret; Turnbull, Douglass M.; Dick, D J; Sherratt, H. S. A.

doi:10.1016/0022-510x(83)90125-9

Cited by 173 publications

(40 citation statements)

References 24 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…3, almost none of the histochemical CCO deficient fibers were ragged red fibers. These results deviate from a previous study (9) wherein a close correlation between the mitochondrial changes and a negative reaction for CCO activity was noted.…”

Section: Discussioncontrasting

confidence: 99%

“…Recently, suggestive evidence of partial CCO deficiency in the skeletal muscle of some cases of mitochondrial myopathy have been shown histochemically (9)(10)(11). While several immunohistochemical studies with polyclonal antibody of CCO have been previously reported (1, 2, 12, 16), we are not aware of any immunohistochemical study using monoclonal antibody against the subunit protein of CCO.…”

mentioning

confidence: 87%

See 1 more Smart Citation

Immunohistochemical study of cytochrome c oxidase with a monoclonal antibody in mitochondrial myopathy.

Higuchi

Nakagawa

Osame

et al. 1988

Acta Histochem. Cytochem

View full text Add to dashboard Cite

Section: Discussioncontrasting

confidence: 99%

mentioning

confidence: 87%

Immunohistochemical study of cytochrome c oxidase with a monoclonal antibody in mitochondrial myopathy.

Higuchi

Nakagawa

Osame

et al. 1988

Acta Histochem. Cytochem

View full text Add to dashboard Cite

“…In several other studies subjects were stressed according to a protocol different from the one applied in the present investigation. 6,10,12,13,[16][17][18][19][20] Generally, a disadvantage of protocols which require an absolute workload is that differences in muscle mass and physical conditioning are not considered, although it is well-known that the lactate increase under a fixed workload may be due to deconditioning and reduced body mass. 17,21 Although a workload relative to the maximal is assumed to give a higher sensitivity and specificity, particularly if the maximal workload is reached stepwise, results of a recent investigation show that cycling with 30% of the maximal workload does not increase the diagnostic yield of the LST.…”

Section: Discussionmentioning

confidence: 99%

Lactate Stress Testing in 155 Patients with Mitochondriopathy

Finsterer

Milvay

2002

Can. j. neurol. sci.

View full text Add to dashboard Cite

Serum lactate is frequently elevated at rest or during slight exercise in patients with mitochondriopathy (MCP). [1][2][3][4] The increase of serum lactate mainly results from defective respiratory chain enzymes in the skeletal muscles, leading to a reactive change from aerobic to anaerobic phosphorylation of adenosine diphosphate and an equilibrium shift of the pyruvate/lactate reaction towards lactate. [5][6][7][8] The increase of serum lactate during slight exercise is used for diagnostic purposes by means of the lactate stress test (LST). 3,[8][9][10][11][12][13][14] Despite increasing interest in this diagnostic tool and widespread application, little is known about the diagnostic yield of the LST in a large group of patients with MCP. This study was thus conducted, to assess the diagnostic yield of the LST in a large number of patients with MCP, diagnosed during five years. PATIENTS AND METHODSIncluded were all patients of the Neurological Hospital Rosenhügel, Vienna, in whom MCP was diagnosed between July ABSTRACT: Objective: Few data are available about the diagnostic yield of the lactate stress test (LST) in a large group of patients with mitochondriopathy (MCP). Methods: Serum lactate was determined once before, three times during, and once after a 15-minute, constant 30W workload on a bicycle in 62 controls, aged 17 to 84 years, 155 patients with MCP, aged 17 to 87 years, and 31 patients with neurological disorders other than MCP. Results: Lactate's upper reference limits at rest, 5, 10, 15 minutes after starting, and 15 minutes after finishing the exercise were 2.0, 2.1, 2.1, 2.1 and 1.8 mmol/l respectively. The test was regarded abnormal if more than two of the five lactate values exceeded the cut-off levels. Among the 103 patients with abnormal LST, 64 (62 %) had normal resting lactate. The sensitivity of the test was 67% and the specificity 94%. Conclusion: The LST proved to have a high sensitivity and specificity in the detection of patients with MCP, being thus a simple but powerful tool to assess the impaired oxidative metabolism in MCP patients.RÉSUMÉ: Test du lactate à l'effort chez 155 patients atteints de mitochondriopathie. Objectif: Il y a peu de données disponibles sur la valeur diagnostique du test du lactate à l'effort (TLE) chez un groupe important de patients atteints de mitochondriopathie (MCP). Méthodes: Le taux de lactate sérique a été déterminé avant, à trois reprises pendant et après un e activité physique de 15 minutes, d'intensité constante à 30W sur une bicyclette, chez 62 contrôles âgés de 17 à 84 ans, 155 patients atteints de MCP, âgés de 17 à 87 ans et 31 patients présentant d'autres pathologies neurologiques. Résultats: Le point de coupe supérieur des valeurs de référence au repos, 5, 10, 15 minutes après le début de l'exercice et 15 minutes après la fin de l'exercice étaient de 2,0, 2,1, 2,1, 2,1 et 1,8 mmol/L respectivement. Le test était considéré comme normal si plus de deux des cinq valeurs de lactate étaient supérieures au point de coupe. Parmi les 103 patients dont...

show abstract

“…Partial defects of COX , so metimes manifested onl y by scattered histochemically negati ve fibers in muscle biopsies, are commo nly seen in patients with PEO and morphologic alterations of mitochondria [RRF (32)(33)(34)]. The pathogeni c significance of thi s partial COX deficiency remained unclear until recentl y, when molecular genetic analysis provided a logical explanation for thi s findin g (see below).…”

Section: The D Iseasesmentioning

confidence: 99%