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A novel missense mutation in causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4.
Front Psychiatry
October 2024
College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Background: Iron-sulfur cluster assembly 2 (ISCA2) deficiency is linked to an autosomal recessive disorder known as multiple mitochondrial dysfunctions syndrome 4 (MMDS4). This disorder is characterized by leukodystrophy and neuroregression. Currently, most of the reported patients are from Saudi Arabia.
View Article and Find Full Text PDFDefects in the Maturation of Mitochondrial Iron-Sulfur Proteins: Biophysical Investigation of the MMDS3 Causing Gly104Cys Variant of IBA57.
Int J Mol Sci
September 2024
Department of Chemistry, University of Florence, Via della Lastruccia 3, Sesto Fiorentino, 50019 Florence, Italy.
Article Synopsis
- - Multiple mitochondrial dysfunctions syndrome type 3 (MMDS3) is a rare genetic disorder caused by mutations in the IBA57 gene, which plays a role in the maturation of specific mitochondrial proteins.
- - The pathogenic variant p.Gly104Cys in the IBA57 gene is linked to severe forms of MMDS3 and leads to issues with mitochondrial respiratory complexes and enzyme functionality in affected individuals.
- - Research techniques like NMR, circular dichroism, and fluorescence spectroscopy revealed that while the p.Gly104Cys variant doesn't affect the formation of IBA57 complexes, it significantly destabilizes the IBA57 protein, contributing to the serious symptoms of MMDS3.
An original cuproptosis-related genes signature effectively influences the prognosis and immune status of head and neck squamous cell carcinoma.
Front Genet
January 2023
Department of Otolaryngology Head and Neck Surgery, Longgang Otolaryngology Hospital, Shenzhen, Guangdong, China.
Recently, a non-apoptotic cell death pathway that is dependent on the presence of copper ions was proposed, named as cuproptosis. Cuproptosis have been found to have a strong association with the clinical progression and prognosis of several cancers. Head and neck squamous cell carcinoma (HNSC) are among the most common malignant tumors, with a 5-year relative survival rate ranging between 40% and 50%.
View Article and Find Full Text PDFMolecular Basis of Rare Diseases Associated to the Maturation of Mitochondrial [4Fe-4S]-Containing Proteins.
Biomolecules
July 2022
Magnetic Resonance Center CERM, University of Florence, 50019 Sesto Fiorentino, Italy.
The importance of mitochondria in mammalian cells is widely known. Several biochemical reactions and pathways take place within mitochondria: among them, there are those involving the biogenesis of the iron-sulfur (Fe-S) clusters. The latter are evolutionarily conserved, ubiquitous inorganic cofactors, performing a variety of functions, such as electron transport, enzymatic catalysis, DNA maintenance, and gene expression regulation.
View Article and Find Full Text PDFNovel IBA57 mutations in two chinese patients and literature review of multiple mitochondrial dysfunction syndrome.
Metab Brain Dis
February 2022
Department of Neurology, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, 600 Yi Shan Road, Shanghai, 200233, China.
Multiple mitochondrial dysfunction syndrome (MMDS) refers to a class of mitochondrial diseases caused by nuclear gene mutations, which usually begins in early infancy and is classically characterized by markedly impaired neurological development, generalized muscle weakness, lactic acidosis, and hyperglycinemia, cavitating leukoencephalopathy, respiratory failure, as well as early fatality resulted from dysfunction of energy metabolism in multiple systems. So far, six types of MMDS have been identified based on different genotypes, which are caused by mutations in NFU1, BOLA3, IBA57, ISCA2, ISCA1 and PMPCB, respectively. IBA57 encodes a protein involved in the mitochondrial Fe/S cluster assembly process, which plays a vital role in the activity of multiple mitochondrial enzymes.
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