Vinoy Navia, Huang Gary, Wallace Daniel F, Subramaniam V Nathan
Hepatogenomics Research Group, Queensland University of Technology (QUT), Brisbane, QLD 4059, Australia.
Centre for Genomics and Personalised Health, School of Biomedical Sciences, Queensland University of Technology (QUT), Brisbane, QLD 4059, Australia.
Int J Mol Sci. 2025 Aug 27;26(17):8303. doi: 10.3390/ijms26178303.
Peroxisomes are cellular organelles involved in multiple metabolic processes, including lipid oxidation, lipid synthesis, and the metabolism of reactive oxygen species. Peroxisomal disorders arise from defects in peroxisomal biogenesis or peroxisomal enzymes. Patients with severe peroxisomal disorders often present with a range of distinctive physical features and congenital malformations, such as neuronal migration defects, renal cysts, and bony stippling in the patellae and long bones. Liver disease has also been reported in some patients with peroxisomal biogenesis disorders, although the exact molecular mechanisms underlying its development remain unclear. Metabolic dysfunction-associated steatotic liver disease (MASLD) is now recognised as one of the most prevalent causes of chronic liver disease globally, due to its widespread incidence and potential for serious complications. This review aims to highlight the possible involvement of peroxisomal defects in the pathogenesis of MASLD.
过氧化物酶体是参与多种代谢过程的细胞器,包括脂质氧化、脂质合成和活性氧的代谢。过氧化物酶体疾病源于过氧化物酶体生物发生或过氧化物酶体酶的缺陷。患有严重过氧化物酶体疾病的患者通常表现出一系列独特的身体特征和先天性畸形,如神经元迁移缺陷、肾囊肿以及髌骨和长骨的骨质点状沉着。在一些过氧化物酶体生物发生障碍的患者中也报告了肝脏疾病,但其发展的具体分子机制仍不清楚。代谢功能障碍相关脂肪性肝病(MASLD)由于其广泛的发病率和严重并发症的可能性,现已被认为是全球慢性肝病最常见的原因之一。本综述旨在强调过氧化物酶体缺陷可能参与MASLD的发病机制。