A Tunisian POLG mutation expands the clinical spectrum of POLG-related disorders

IF 3.9 3区生物学 Q2 CELL BIOLOGY

Mitochondrion Pub Date : 2025-07-11 DOI:10.1016/j.mito.2025.102071

Abir Zioudi , Ismail Gouiza , Said Galai , Meriem Hechmi , Hedia Klaa , Zouhour Miladi , Thouraya Ben Younes , Hanene Benrhouma , Ilhem Ben Youssef-Turki , Souheil Omar , Guy Lenaers , Rym Kefi , Neziha Gouider-Khouja , Ichraf Kraoua

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引用次数: 0

Abstract

Mitochondrial Neuro-Gastro-Intestinal Encephalopathy (MNGIE) is a rare and fatal mitochondrial disorder caused by biallelic mutations in the TYMP gene. In rare cases, it can be caused by pathogenic variants in the POLG gene, with a clinical presentation similar to that of TYMP-related MNGIE, except for the absence of leukoencephalopathy.

Here we report the cases of six Tunisian patients presenting with a homogeneous clinical MNGIE-like phenotype, characterized by an early infantile onset. Key features included psychomotor delay or regression, peripheral neuropathy, gastrointestinal disturbances, hypotrophy or growth retardation, and elevated cerebrospinal fluid protein levels. All patients originated from the same governorate and carried the same homozygous POLG variant c.2391G > T (p.Met797Ile), which may suggest a founder effect.

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突尼斯POLG突变扩大了POLG相关疾病的临床谱。

线粒体神经胃肠脑病（MNGIE）是由TYMP基因双等位基因突变引起的一种罕见且致命的线粒体疾病。在极少数情况下，它可以由POLG基因的致病变异引起，临床表现与tymp相关的MNGIE相似，除了没有脑白质病。在这里，我们报告了6例突尼斯患者，他们表现出均匀的临床mgi样表型，其特征是婴儿早期发病。主要特征包括精神运动延迟或消退、周围神经病变、胃肠道紊乱、发育迟缓或生长迟缓以及脑脊液蛋白水平升高。所有患者来自同一省份，携带相同的纯合子POLG变体c.2391G > T (p.Met797Ile)，这可能表明存在奠基人效应。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Mitochondrion 生物-细胞生物学

CiteScore

9.40

自引率

4.50%

发文量

审稿时长

13.6 weeks

期刊介绍： Mitochondrion is a definitive, high profile, peer-reviewed international research journal. The scope of Mitochondrion is broad, reporting on basic science of mitochondria from all organisms and from basic research to pathology and clinical aspects of mitochondrial diseases. The journal welcomes original contributions from investigators working in diverse sub-disciplines such as evolution, biophysics, biochemistry, molecular and cell biology, genetics, pharmacology, toxicology, forensic science, programmed cell death, aging, cancer and clinical features of mitochondrial diseases.