Predominant cellular mitochondrial dysfunction in the TOP3A gene-caused Bloom syndrome-like disorder
نویسندگان
چکیده
منابع مشابه
Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM.
BACKGROUND Bloom syndrome is an autosomal recessive disorder characterized by extraordinary cancer incidence early in life and an average life expectancy of ~27 years. Premature stop codons in BLM, which encodes a DNA helicase that functions in DNA double-strand-break repair, make up the vast majority of Bloom syndrome mutations, with only 13 single amino acid changes identified in the syndrome...
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BACKGROUND Charles Darwin (CD), "father of modern biology," suffered from multisystem illness from early adulthood. The most disabling manifestation was cyclic vomiting syndrome (CVS). This study aims at finding the possible cause of CVS in CD. METHODS A literature search using the PubMed database was carried out, and CD's complaints, as reported in his personal writings and those of his rela...
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Mitochondrial dysfunction caused by pathogenic mutations in mitochondrial tRNA genes emerges only when mutant mitochondrial DNA (mtDNA) proportions exceed intrinsic pathogenic thresholds; however, little is known about the actual proportions of mutant mtDNA that can affect particular cellular lineage-determining processes. Here, we mainly focused on the effects of mitochondrial respiratory dysf...
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AIM To describe multiple retinal abnormalities in a patient with Bloom syndrome, including early macular drusen, diabetic retinopathy, and the onset of leukaemic retinopathy. METHODS Clinical data were collected over 1 year of follow up, and ocular abnormalities in Bloom syndrome were reviewed from the literature. RESULTS A 39 year old man with a rare autosomal recessive "chromosome breakag...
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ژورنال
عنوان ژورنال: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
سال: 2021
ISSN: 0925-4439
DOI: 10.1016/j.bbadis.2021.166106