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Mitochondria-Associated Gene SLC25A32 as a Novel Prognostic and Immunotherapy Biomarker: From Pan-Cancer Multiomics Analysis to Breast Cancer Validation.
Anal Cell Pathol (Amst)
December 2024
Department of Pathology, Southern Medical University Hospital of Integrated Traditional Chinese and Western Medicine, Southern Medical University, Guangzhou, Guangdong 510315, China.
Background: Mutations in SLC25A32 in humans cause late-onset exercise intolerance, which is associated with various neurological and metabolic diseases. However, its specific mechanism of action in tumour development is poorly understood owing to the lack of multiomics integrated analysis of SLC25A32 in pan-cancer.
Methods: We used various analytical tools to comprehensively investigate the transcription, protein level, and promoter methylation of SLC25A32.
Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, Australia.
Mol Genet Metab
August 2024
Mater Research Institute-University of Queensland, Translational Research Institute, 37 Kent St, Woolloongabba, QLD 4102, Australia. Electronic address:
Glutaric aciduria type II (GAII) is a heterogeneous genetic disorder affecting mitochondrial fatty acid, amino acid and choline oxidation. Clinical manifestations vary across the lifespan and onset may occur at any time from the early neonatal period to advanced adulthood. Historically, some patients, in particular those with late onset disease, have experienced significant benefit from riboflavin supplementation.
View Article and Find Full Text PDFMutational analysis of FOLR1 and FOLR2 genes in children with Myelomeningocele.
Acta Biochim Pol
October 2023
Department of Pharmacology and Toxicology, College of Pharmacy, King Saud University, P.O. Box 2455, Riyadh 11451, Saudi Arabia.
Myelomeningocele (MMC) is a congenital disease. For a long time, molecular mechanism of MMC, the role of folate receptor and transporter proteins remain unclear. Folate from maternal lumen to developing embryo is carried out with the help of folate transporters (SLC46A1, SLC19A1, FOLH1 and SLC25A32) and folate receptor (FOLR1, FOLR2 and FOLR3).
View Article and Find Full Text PDFMitochondrial FAD shortage in SLC25A32 deficiency affects folate-mediated one-carbon metabolism.
Cell Mol Life Sci
June 2022
Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, the Affiliated Hospital of Guangzhou Medical University, 9 Jinsui Road, Guangzhou, China.
Article Synopsis
- The study focuses on SLC25A32 dysfunction, which is linked to neural tube defects (NTDs) and exercise intolerance, but lacks sufficient animal models for understanding specific disease mechanisms.
- Researchers created various genetically modified mice to replicate human mutations, finding that certain mutations caused mild motor issues and biochemical disturbances while leading to NTDs in others.
- Results revealed that SLC25A32 dysfunction blocked the uptake of flavin adenine dinucleotide (FAD) in mitochondria, disrupted crucial metabolic processes, and suggested that formate supplementation could alleviate certain deficiencies and NTDs in affected embryos.
Hypoketotic hypoglycemia without neuromuscular complications in patients with SLC25A32 deficiency.
Eur J Hum Genet
August 2022
Genetic and Developmental Medicine Clinic, Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.
Mitochondrial flavin adenine dinucleotide (FAD) transporter deficiencies are new entities recently reported to cause a neuro-myopathic phenotype. We report three patients from two unrelated families who presented primarily with hypoketotic hypoglycemia. They all had acylcarnitine profiles suggestive of multiple acyl-CoA dehydrogenase deficiency (MADD) with negative next-generation sequencing of electron-transfer flavoprotein genes (ETFA, ETFB, and ETFDH).
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