家族性 MERRF 综合征患者的线粒体疾病

A. S. Latypov, E. V. Proskurina, S. V. Kotov, O. P. Sidorova, I. A. Vasilenko, D. Kassina, A. S. Kotov
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引用次数: 0

摘要

MERRF 综合征(肌阵挛癫痫粗红色纤维)属于原发性线粒体疾病,其特征是同时伴有肌阵挛癫痫和肌肉活检中的粗红色纤维现象。这项工作的目的是通过测定外周血淋巴细胞中线粒体酶的细胞化学活性和血液中的乳酸水平,研究一个 MERRF 综合征家族患者的线粒体疾病。本文介绍了患有 MERRF 综合征的 25 岁姐姐和 19 岁弟弟的临床病例,他们都患有 MT-TK(tRNA (Lys))m.8344A>G 变异,姐姐的血液中异型蛋白含量为 50%,弟弟的血液中同型蛋白含量为 50%。线粒体紊乱通过血液乳酸水平和外周血淋巴细胞中线粒体酶活性的细胞化学研究进行评估。两名患者餐前血乳酸水平均升高。摄入碳水化合物后,姐姐的乳酸水平升高,而弟弟的乳酸水平降低。妹妹在服用左乙拉西坦、100 毫克辅酶 Q10 和 100 毫克左旋肉碱时,外周血淋巴细胞酶的活性降低。增加促能量药物的剂量后,线粒体酶的活性增加。该兄弟的琥珀酸脱氢酶水平出现了代偿性上升,而其他酶的活性则有所下降。我们使用的方法可用于临床实践,以诊断线粒体疾病和调整能量促进药物的剂量,由于缺乏有效的基因疗法,这些方法仍然具有现实意义。
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Mitochondrial disorders in patients with familial form of MERRF syndrome
MERRF syndrome (myoclonic epilepsy ragged red fibres) belongs to the group of primary mitochondrial diseases and is characterized by a combination of myoclonic epilepsy and the phenomenon of ragged red fibres on muscle biopsy. The aim of this work is to study mitochondrial disorders in patients from a family with MERRF syndrome by determining the cytochemical activity of mitochondrial enzymes in peripheral blood lymphocytes and the level of lactate in the blood. Clinical cases of a 25-year-old sister and a 19-year-old brother with MERRF syndrome with the m.8344A>G variant in MT-TK (tRNA (Lys)) with a blood heteroplasmy level of 50 % in the sister and homoplasmy in the brother are presented. Mitochondrial disorders were assessed by blood lactate levels and cytochemical studies of mitochondrial enzyme activity in peripheral blood lymphocytes. Pre-prandial blood lactate levels were elevated in both patients. After a carbohydrate load, it increased in the sister, and decreased in the brother. The sister had decreased activity of peripheral blood lymphocyte enzymes while taking levetiracetam, 100 mg of coenzyme Q10 and 100 mg of L-carnitine. The dose of energotropic drugs was increased, which led to an increase in the activity of mitochondrial enzymes. The brother had a compensatory increase in the level of succinate dehydrogenase and a decrease in the activity of other enzymes. The methods we used can be used in clinical practice to diagnose mitochondrial disorders and to adjust the dosage of energotropic drugs, which remain relevant due to the lack of effective gene therapy.
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