Electron microscopic findings in levator muscle biopsies of patients with isolated congenital or acquired ptosis

Wabbels, Bettina; Schroeder, Josef; Voll, Beate; Siegmund, Heiko; Lorenz, Birgit

doi:10.1007/s00417-007-0603-8

Cited by 19 publications

(7 citation statements)

References 44 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Wabbels included EM examination for 24 patients with PEO, congenital ptosis, or early-onset acquired ptosis. 6 Findings in PEO patients were similar to those with other causes of ptosis. However, this study was limited by a lack of histological or molecular genetic data, and in this regard it is uncertain whether some or all of the patients with congenital or acquired ptosis may have also had a type of MM (or whether some of the PEO patients had been misdiagnosed).…”

Section: Table: Muscle Pathology and Genetic Testing Resultssupporting

confidence: 67%

Levator Palpebrae Biopsy and Diagnosis of Progressive External Ophthalmoplegia

Pfeffer

Waters²,

Maguire³

et al. 2012

Can. J. Neurol. Sci.

View full text Add to dashboard Cite

RÉSUMÉ: Biopsie du muscle releveur de la paupière et diagnostic de l'ophtalmoplégie externe progressive. Contexte : L'ophtalmoplégie externe progressive (OEP) est une myopathie mitochondriale des muscles oculaires. L'évaluation diagnostique comprend une biopsie d'un muscle squelettique au niveau d'un membre et des études de génétique moléculaire. Cependant, le taux de diagnostic demeure bas. Le but de cette étude était d'évaluer le taux de diagnostic obtenu au moyen de l'analyse du tissu du muscle releveur de la paupière (RP). Méthode : Il s'agit d'une étude clinicopathologique effectuée chez 8 patients, chez qui un diagnostic d'OEP avait été posé, et qui ont subi une biopsie du RP dans le cadre d'une chirurgie oculoplastique. Six de ces patients ont également subi une biopsie d'un muscle au niveau d'un membre. Des études anatomopathologiques, de microscopie électronique et génétiques ont été réalisées. Résultats : Le diagnostic a été établi en anatomopathologie sur 4 des 6 biopsies du quadriceps et sur 7 des 8 biopsies du RP. Des anomalies ont été détectées par des tests génétiques effectués sur de l'ADN extrait du muscle RP chez 4 patients. Conclusion : Chez les patients chez qui des défauts génétiques et des anomalies anatomopathologiques du muscle RP ont été mis en évidence, le diagnostic d'OEP peut être confirmé sans biopsie musculaire au niveau d'un membre. Chez les patients qui subissent une résection du RP pendant une oculoplastie pour traiter une ptose, la biopsie musculaire au niveau d'un membre peut donc être évitée. Des études plus poussées devront être faites pour déterminer la spécificité de ces observations.

show abstract

Section: Table: Muscle Pathology and Genetic Testing Resultssupporting

confidence: 67%

Levator Palpebrae Biopsy and Diagnosis of Progressive External Ophthalmoplegia

Pfeffer

Waters²,

Maguire³

et al. 2012

Can. J. Neurol. Sci.

View full text Add to dashboard Cite

show abstract

“…1 although the levator muscles depend on oxidative phosphorylation to a lesser extent than other extraocular muscles, as they do not generate individual twitch contractions at an extremely high frequency. Recent studies using electron microscopy found no correlation between mitochondrial alterations and levator muscle function in patients with and without systemic mitochondriopathies [14]. Neuropathological findings in KSS have revealed spongy degeneration, neuronal loss, demyelination, gliosis and siderosis in the WM of basal ganglia and the brainstem [15], including the 3rd, 4th and 6th cranial nerve nuclei and the medial longitudinal fasciculus, the major internuclear connecting pathway [3].…”

Section: Discussionmentioning

confidence: 98%

Diffusion tensor imaging in a case of Kearns–Sayre syndrome: Striking brainstem involvement as a possible cause of oculomotor symptoms

Duning

Deppe

Keller

et al. 2009

Journal of the Neurological Sciences

View full text Add to dashboard Cite

“…The ultra-thin sections were stained with uranyl acetate and lead citrate, analyzed with a TEM and attached digital camera (TEM, JEM1400, Japan, GATAN, Germany). The length and width of mitochondria (at least 50 mitochondria per section) were measured with DigitalMicrograph (Gatan Inc., USA) software 6 , 59 , 60 .…”

Section: Methodsmentioning

confidence: 99%

Reduced mitochondrial fission and impaired energy metabolism in human primary skeletal muscle cells of Megaconial Congenital Muscular Dystrophy

Aksu-Menges

Eylem

Nemutlu

et al. 2021

Sci Rep

View full text Add to dashboard Cite

Megaconial Congenital Muscular Dystrophy (CMD) is a rare autosomal recessive disorder characterized by enlarged mitochondria located mainly at the periphery of muscle fibers and caused by mutations in the Choline Kinase Beta (CHKB) gene. Although the pathogenesis of this disease is not well understood, there is accumulating evidence for the presence of mitochondrial dysfunction. In this study, we aimed to investigate whether imbalanced mitochondrial dynamics affects mitochondrial function and bioenergetic efficiency in skeletal muscle cells of Megaconial CMD. Immunofluorescence, confocal and transmission electron microscopy studies revealed impaired mitochondrial network, morphology, and localization in primary skeletal muscle cells of Megaconial CMD. The organelle disruption was specific only to skeletal muscle cells grown in culture. The expression levels of mitochondrial fission proteins (DRP1, MFF, FIS1) were found to be decreased significantly in both primary skeletal muscle cells and tissue sections of Megaconial CMD by Western blotting and/or immunofluorescence analysis. The metabolomic and fluxomic analysis, which were performed in Megaconial CMD for the first time, revealed decreased levels of phosphonucleotides, Krebs cycle intermediates, ATP, and altered energy metabolism pathways. Our results indicate that reduced mitochondrial fission and altered mitochondrial energy metabolism contribute to mitochondrial dysmorphology and dysfunction in the pathogenesis of Megaconial CMD.

show abstract

Electron microscopic findings in levator muscle biopsies of patients with isolated congenital or acquired ptosis

Cited by 19 publications

References 44 publications

Levator Palpebrae Biopsy and Diagnosis of Progressive External Ophthalmoplegia

Levator Palpebrae Biopsy and Diagnosis of Progressive External Ophthalmoplegia

Diffusion tensor imaging in a case of Kearns–Sayre syndrome: Striking brainstem involvement as a possible cause of oculomotor symptoms

Reduced mitochondrial fission and impaired energy metabolism in human primary skeletal muscle cells of Megaconial Congenital Muscular Dystrophy

Contact Info

Product

Resources

About