Department of Anatomical Pathology, St Vincent's Hospital Melbourne, Fitzroy, VIC 3065, Australia.
Clin Exp Ophthalmol. 2012 Jul;40(5):497-502. doi: 10.1111/j.1442-9071.2011.02727.x. Epub 2011 Dec 23.
Orbicularis oculi (OO) muscle has recently proposed as a suitable muscle for biopsy to diagnose mitochondrial cyopathy:
Enzyme histochemical and immunohistochemical studies were performed on OO muscle obtained from 18 patients aged 37-87 years (median 64 years), 6 males, 12 females, who were undergoing routine upper blepharoplasty surgery.
We confirmed the marked type II fibre (fast myosin heavy chain) predominance (89%) but also noted a different proportion and distribution of mitochondria in these fibres with occasional pseudo-'ragged-red' fibres with prominent subsarcolemmal and cytoplasmic aggregation of mitochondria. Cytochrome oxidase-negative fibres and true 'ragged-red' fibres were found at all ages over 40 years at levels that approach those used for diagnosis of mitochondrial cytopathy in peripheral or limb skeletal muscles.
We would therefore urge caution in the use of OO as muscle biopsy for diagnosis of mitochondrial cytopathy and advise concomitant biopsy of limb skeletal muscle and/or supplementary genetic studies.
眼轮匝肌(OO)最近被提议作为活检诊断线粒体细胞病变的合适肌肉:
对 18 名年龄在 37-87 岁(中位年龄 64 岁)的男性 6 名,女性 12 名患者进行了常规上眼睑整形手术的 OO 肌肉进行了酶组织化学和免疫组织化学研究。
我们证实了明显的 II 型纤维(快速肌球蛋白重链)优势(89%),但也注意到这些纤维中线粒体的比例和分布不同,偶尔会出现假“锯齿状红纤维”,伴有明显的肌膜下和细胞质中线粒体聚集。在所有年龄超过 40 岁的人中,我们发现了细胞色素氧化酶阴性纤维和真正的“锯齿状红纤维”,其水平接近周围或肢体骨骼肌中用于诊断线粒体细胞病变的水平。
因此,我们强烈建议在诊断线粒体细胞病变时谨慎使用 OO 作为肌肉活检,并建议同时进行肢体骨骼肌活检和/或补充遗传研究。