The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions.
The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions.
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DOI：
10.3390/brainsci10110766
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发表时间：
2020-10-22
期刊：
影响因子：
3.3
通讯作者：
Honzík T
中科院分区：
文献类型：
--
作者：
Anteneová N;Kelifová S;Kolářová H;Vondráčková A;Tóthová I;Lišková P;Magner M;Zámečník J;Hansíková H;Zeman J;Tesařová M;Honzík T
背景资料：在这项回顾性研究中，我们分析了47例捷克患者的临床，生化和分子遗传学数据与单一，大规模线粒体DNA缺失（SLSMD）。研究方法：诊断是基于15例患者肌肉活检和32例患者口腔拭子，尿上皮细胞和血液中分离的mtDNA的长距离PCR（LX-PCR）筛选。结果：57%的患者在16岁以前发病。我们没有发现任何显着差异，儿童和成人的表现，无论是患者的比例，将发展眼外症状，或其进展的时间跨度。Pearson综合征患者的生存率达60%。总共有5例患者表现为不符合SLSMD最新标准的非典型表型。在肌肉中发现疾病严重程度与所有异质性水平、缺失长度和呼吸链活性之间没有相关性。结论：进行性眼外肌麻痹（PEO）的儿科表现与多系统受累的风险无关。与PEO和Kearns-Sayre综合征谱相反，Pearson综合征仍然导致显著的儿童死亡率。即使在非典型表现的病例中也应考虑SLSMD。为了成功地识别SLSMD携带者，需要对口腔拭子和尿上皮细胞进行重复的联合分析。
Background: In this retrospective study, we analysed clinical, biochemical and molecular genetic data of 47 Czech patients with Single, Large-Scale Mitochondrial DNA Deletions (SLSMD). Methods: The diagnosis was based on the long-range PCR (LX-PCR) screening of mtDNA isolated from muscle biopsy in 15 patients, and from the buccal swab, urinary epithelial cells and blood in 32 patients. Results: A total of 57% patients manifested before the age of 16. We did not find any significant difference between paediatric and adult manifestation in either the proportion of patients that would develop extraocular symptoms, or the timespan of its progression. The survival rate in patients with Pearson Syndrome reached 60%. Altogether, five patients manifested with atypical phenotype not fulfilling the latest criteria for SLSMD. No correlation was found between the disease severity and all heteroplasmy levels, lengths of the deletion and respiratory chain activities in muscle. Conclusions: Paediatric manifestation of Progressive External Ophthalmoplegia (PEO) is not associated with a higher risk of multisystemic involvement. Contrary to PEO and Kearns-Sayre Syndrome Spectrum, Pearson Syndrome still contributes to a significant childhood mortality. SLSMD should be considered even in cases with atypical presentation. To successfully identify carriers of SLSMD, a repeated combined analysis of buccal swab and urinary epithelial cells is needed.
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影响因子：
11.2
作者：
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影响因子：
2.3
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通讯作者：
Wittich, Christopher M.
影响因子：
64.8
作者：
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通讯作者：
MORGANHUGHES, JA
影响因子：
14.5
作者：
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通讯作者：
Carelli, Valerio