Siblings of FBXL4-related mitochondrial DNA depletion syndrome, leading to fatal fulminant pneumonia

IF 1.9 4区医学 Q3 GENETICS & HEREDITY

Molecular Genetics and Metabolism Reports Pub Date : 2025-10-10 DOI:10.1016/j.ymgmr.2025.101266

Takato Akiba , Shino Shimada , Shimpei Matsuda , Shoji Ishida , Yosuke Baba , Atsushi Yamashita , Hiromichi Shoji , Yasushi Okazaki , Kei Murayama

引用次数: 0

Abstract

The F-box and leucine-rich repeat protein 4 (FBXL4) is a nuclear encoded mitochondrial protein essential for mitochondrial DNA (mtDNA) maintenance. Biallelic variants in FBXL4 cause FBXL4-related mitochondrial DNA depletion syndrome (FBXL4-MTDPS), characterized by lactic acidosis and developmental delay. We report two siblings diagnosed with FBXL4-MTDPS who died of fulminant pneumonia in infancy; autopsy revealed extensive pulmonary inflammation consistent with severe bacterial infection. FBXL4-MTDPS may involve intrinsic defects in pulmonary infection defense, increasing susceptibility to fatal infection such as pneumonia.

查看原文本刊更多论文

fbxl4相关线粒体DNA缺失综合征的兄弟姐妹，导致致命的暴发性肺炎

F-box和富含亮氨酸的重复蛋白4 （FBXL4）是线粒体DNA （mtDNA）维持所必需的核编码线粒体蛋白。FBXL4双等位基因变异导致FBXL4相关线粒体DNA缺失综合征（FBXL4- mtdps），其特征是乳酸酸中毒和发育迟缓。我们报告了两个被诊断为FBXL4-MTDPS的兄弟姐妹，他们在婴儿期死于暴发性肺炎；尸检显示广泛的肺部炎症与严重的细菌感染一致。FBXL4-MTDPS可能涉及肺部感染防御的内在缺陷，增加对肺炎等致命感染的易感性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Molecular Genetics and Metabolism Reports Biochemistry, Genetics and Molecular Biology-Endocrinology

CiteScore

4.00

自引率

5.30%

发文量

105

审稿时长

33 days

期刊介绍： Molecular Genetics and Metabolism Reports is an open access journal that publishes molecular and metabolic reports describing investigations that use the tools of biochemistry and molecular biology for studies of normal and diseased states. In addition to original research articles, sequence reports, brief communication reports and letters to the editor are considered.