A novel variant in the COX15 gene causing a fatal infantile cardioencephalomyopathy: A case report with clinical and molecular review

Oliveira, Manuella Galvão de; Tengan, Célia Harumi; Micheletti, Cecília; Macedo, Paloma Ramos de; Cernach, Mirlene Cecília Soares Pinho; Cavole, Thiago Rodrigues; França, Marina de; Filho, Joselito Sobreira; Virmond, Luiza Amaral; Milanezi, Fernanda; Nakano, Viviane; Falconi, Ariane; Perrone, Eduardo

doi:10.1016/j.ejmg.2021.104195

Cited by 3 publications

(1 citation statement)

References 30 publications

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“…In the present study, WNT-5B, FZD1 and FZD7 were all up-regulated after molting, suggesting they play a synergistic regulatory role in the cardiac development of E. sinensis during the post-molt period. COX15 is essential for the synthesis of heme A and plays a regulatory function in the blood circulatory system ( De Oliveira et al, 2021 ). Myocytes invaginate to form T-tubes and prevent the negative effects of rapid changes in extracellular fluid induced by calcium.…”

Section: Discussionmentioning

confidence: 99%

Exploration of the regulatory mechanisms of regeneration, anti-oxidation, anti-aging and the immune response at the post-molt stage of Eriocheir sinensis

Wang

et al. 2022

Front. Physiol.

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Eriocheir sinensis is widely appreciated by the surrounding population due to its culinary delicacy and rich nutrients. The E. sinensis breeding industry is very prosperous and molting is one of the important growth characteristics. Research on the regulation of molting in E. sinensis is still in the initial stages. There is currently no relevant information on the regulatory mechanisms of heart development following molting. Comparative transcriptome analysis was used to study developmental regulation mechanisms in the heart of E. sinensis at the post-molt and inter-molt stages. The results indicated that many regulatory pathways and genes involved in regeneration, anti-oxidation, anti-aging and the immune response were significantly upregulated after molting in E. sinensis. Aside from cardiac development, the differentially expressed genes (DEGs) were relevant to myocardial movement and neuronal signal transduction. DEGs were also related to the regulation of glutathione homeostasis and biological rhythms in regard to anti-oxidation and anti-aging, and to the regulation of immune cell development and the immune response. This study provides a theoretical framework for understanding the regulation of molting in E. sinensis and in other economically important crustaceans.

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Section: Discussionmentioning

confidence: 99%

Exploration of the regulatory mechanisms of regeneration, anti-oxidation, anti-aging and the immune response at the post-molt stage of Eriocheir sinensis

Wang

et al. 2022

Front. Physiol.

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Identification and validation of biomarkers related to mitochondria during ex vivo lung perfusion for lung transplants based on machine learning algorithm

Yang,

Lu,

Geng

et al. 2025

Gene

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COX15 deficiency causes oocyte ferroptosis

Zhang,

Yu,

Shi

et al. 2024

Proc. Natl. Acad. Sci. U.S.A.

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Mitochondria play diverse roles in mammalian physiology. The architecture, activity, and physiological functions of mitochondria in oocytes are largely different from those in somatic cells, but the mitochondrial proteins related to oocyte quality and reproductive longevity remain largely unknown. Here, using whole-exome sequencing data from 1,024 women (characterized by oocyte maturation arrest and degenerated or morphologically abnormal oocytes) and 2,868 healthy controls, we performed a population and gene–based burden test for mitochondrial genes and identified a candidate gene, cytochrome c oxidase assembly protein 15 ( COX15). We report that biallelic COX15 pathogenic variants cause human oocyte ferroptosis and female infertility in a recessive inheritance pattern. COX15 variants impaired mitochondrial respiration in Saccharomyces cerevisiae and led to reduced protein levels in HeLa cells. Oocyte-specific deletion of Cox15 led to impaired Fe 2+ and reactive oxygen species homeostasis that caused mitochondrial dysfunction and ultimately sensitized oocytes to ferroptosis. In addition, ferrostatin-1 (an inhibitor of ferroptosis) could rescue the oocyte ferroptosis phenotype in vitro and ex vivo. Our findings not only provide a genetic diagnostic marker for oocyte development defects but also expand the spectrum of mitochondrial disorders to female infertility and contribute to unique insights into the role of ferroptosis in human oocyte defects.

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A novel variant in the COX15 gene causing a fatal infantile cardioencephalomyopathy: A case report with clinical and molecular review

Cited by 3 publications

References 30 publications

Exploration of the regulatory mechanisms of regeneration, anti-oxidation, anti-aging and the immune response at the post-molt stage of Eriocheir sinensis

Exploration of the regulatory mechanisms of regeneration, anti-oxidation, anti-aging and the immune response at the post-molt stage of Eriocheir sinensis

Identification and validation of biomarkers related to mitochondria during ex vivo lung perfusion for lung transplants based on machine learning algorithm

COX15 deficiency causes oocyte ferroptosis

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