Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, 250012, China.
Department of Neurology, First Affiliated Hospital of Wenzhou Medical University, Nanbaixiang Street, Ouhai District, Wenzhou, 325000, China.
Ann Clin Transl Neurol. 2023 Jun;10(6):1035-1045. doi: 10.1002/acn3.51787. Epub 2023 May 23.
To explore the clinical characteristics of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) caused by mitochondrial DNA-encoded complex I subunit (mt-ND) variants.
In this retrospective study, the clinical, myopathological and brain MRI features of patients with MELAS caused by mt-ND variants (MELAS-mtND) were collected and compared with those of MELAS patients carrying the m.3243A > G variant (MELAS-A3243G).
A total of 18 MELAS-mtND patients (female: 7; median age: 24.5 years) represented 15.9% (n = 113) of all patients with MELAS caused by mtDNA variants in our neuromuscular center from January 2012 to June 2022. In this MELAS-mtND cohort, the two most common variants were m.10191 T > C (4/18, 22.2%) and m.13513 G > A (3/18, 16.7%). The most frequent symptoms were seizures (14/18, 77.8%) and muscle weakness (11/18, 61.1%). Compared with 87 MELAS-A3243G patients, MELAS-mtND patients were significantly more likely to have a variant that was absent in blood cells (40% vs. 1.4%). Furthermore, MELAS-mtND patients had a significantly lower MDC score (7.8 ± 2.7 vs. 9.8 ± 1.9); less hearing loss (27.8% vs. 54.0%), diabetes (11.1% vs. 37.9%), and migraine (33.3% vs. 62.1%); less short stature (males ≤ 165 cm; females ≤ 155 cm; 23.1% vs. 60.8%) and higher body mass index (20.4 ± 2.5 vs. 17.8 ± 2.7). MELAS-mtND patients had significantly more normal muscle pathology (31.3% vs. 4.1%) and fewer RRFs/RBFs (62.5% vs. 91.9%), COX-deficient fibers/blue fibers (25.0% vs. 85.1%) and SSVs (50.0% vs. 81.1%). Moreover, brain MRI evaluated at the first stroke-like episode showed significantly more small cortical lesions in MELAS-mtND patients (66.7% vs. 12.2%).
Our results suggested that MELAS-mtND patients have distinct clinical, myopathological and brain MRI features compared with MELAS-A3243G patients.
探讨线粒体 DNA 编码复合物 I 亚基（mt-ND）变异引起的线粒体脑肌病、乳酸酸中毒和卒中样发作（MELAS）的临床特征。
在这项回顾性研究中，收集了 mt-ND 变异（MELAS-mtND）引起的 MELAS 患者的临床、肌病学和脑 MRI 特征，并与携带 m.3243A>G 变异（MELAS-A3243G）的 MELAS 患者进行了比较。
共 18 名 MELAS-mtND 患者（女性 7 名；中位年龄 24.5 岁）占我们神经肌肉中心 2012 年 1 月至 2022 年 6 月间所有 mtDNA 变异引起的 MELAS 患者的 15.9%（n=113）。在这个 MELAS-mtND 队列中，最常见的两个变异是 m.10191T>C（4/18，22.2%）和 m.13513G>A（3/18，16.7%）。最常见的症状是癫痫发作（14/18，77.8%）和肌肉无力（11/18，61.1%）。与 87 名 MELAS-A3243G 患者相比，MELAS-mtND 患者明显更有可能存在血液细胞中不存在的变异（40% vs. 1.4%）。此外，MELAS-mtND 患者的 MDC 评分明显较低（7.8±2.7 vs. 9.8±1.9）；听力损失（27.8% vs. 54.0%）、糖尿病（11.1% vs. 37.9%）和偏头痛（33.3% vs. 62.1%）明显较少；身材矮小（男性≤165cm；女性≤155cm；23.1% vs. 60.8%）和体重指数较高（20.4±2.5 vs. 17.8±2.7）。MELAS-mtND 患者的肌肉病理表现明显更正常（31.3% vs. 4.1%），RRFs/RBFs（62.5% vs. 91.9%）、COX 缺陷纤维/蓝纤维（25.0% vs. 85.1%）和 SSVs（50.0% vs. 81.1%）明显较少。此外，首次卒中样发作时的脑 MRI 评估显示 MELAS-mtND 患者的皮质小病变明显更多（66.7% vs. 12.2%）。
与 MELAS-A3243G 患者相比，MELAS-mtND 患者具有明显不同的临床、肌病学和脑 MRI 特征。
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