皮肤活检
活检
病理
包涵体
拉福拉病
细胞质包涵体
医学
生物
肌病
肌肉活检
基因
遗传学
磷酸化
生物化学
磷酸酶
大肠杆菌
作者
Masashi Ogasawara,Nobuyuki Eura,Utako Nagaoka,Tatsuro Sato,Hajime Arahata,Tomohiro Hayashi,Tomoko Okamoto,Yūji Takahashi,Madoka Mori‐Yoshimura,Yasushi Oya,Akinori Nakamura,Rui Shimazaki,Terunori Sano,Theerawat Kumutpongpanich,Narihiro Minami,Shinichiro Hayashi,S. Noguchi,Aritoshi Iida,Masaki Takao,Ichizo Nishino
摘要
Oculopharyngodistal myopathy (OPDM) is caused by the expansion of CGG repeats in NOTCH2NLC (OPDM_NOTCH2NLC) GIPC1 (OPDM_GIPC1), or LRP12 (OPDM_LRP12). Neuronal intranuclear inclusion disease (NIID) is clinically distinct from OPDM but is also caused by the expansion of CGG repeats in NOTCH2NLC, which may be an indicator of intranuclear inclusion in skin biopsy. We investigated the presence of intranuclear inclusions in skin biopsies from patients with OPDM and muscle diseases with a similar pathology to evaluate whether they will have similar diagnostic findings on skin biopsy.We analysed the frequency of p62-positive intranuclear inclusions in sweat gland cells, adipocytes and fibroblasts in skin biopsy samples from patients with OPDM (OPDM_NOTCH2NLC [n = 2], OPDM_GIPC1 [n = 6] and OPDM_LRP12 [n = 3]), NIID (n = 1), OPMD (n = 1), IBM (n = 4) and GNE myopathy (n = 2).The p62-postive intranuclear inclusions were observed in all three cell types in both patients with OPDM_NOTCH2NLC and a patient with NIID, in at least one cell type in all six patients with OPDM_GIPC1, and all in three cell types in one of the three patients with OPDM_LRP12. These findings were not observed in patients with OPMD, IBM or GNE myopathy.Intranuclear inclusions in skin biopsy samples are not specific to NIID and are found in all three types of genetically confirmed OPDM, suggesting that the underlying mechanism of OPDM may be similar to NIID, regardless of causative genes.
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