A late diagnosis of hyperhomocysteinemia with probable evolution to verrucous elephantiasis nostra and leg ulcers

Abdalla, Beatrice Martinez Zugaib; Oliveira, Renan Tironi Giglio de; Afonso, Rafaela Issa; Criado, Paulo Ricardo

doi:10.1016/j.abd.2020.04.014

Cited by 2 publications

(2 citation statements)

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“…Another example is a male patient (60 years old) with HHcy and MTHFR heterozygosity in segments C677T and A1298C had deteriorating healing of leg ulcers that can lead to the evolution of verrucous elephantiasis nostra. Six months of treatment with vitamin B complex and oral folic acid improved the Hcy level and healed the dermatological lesions [197].…”

Section: Hhcy As a Risk Factor Of Impaired Healingmentioning

confidence: 97%

Homocysteine metabolism as the target for predictive medical approach, disease prevention, prognosis, and treatments tailored to the person

et al. 2021

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Homocysteine (Hcy) metabolism is crucial for regulating methionine availability, protein homeostasis, and DNA-methylation presenting, therefore, key pathways in post-genomic and epigenetic regulation mechanisms. Consequently, impaired Hcy metabolism leading to elevated concentrations of Hcy in the blood plasma (hyperhomocysteinemia) is linked to the overproduction of free radicals, induced oxidative stress, mitochondrial impairments, systemic inflammation and increased risks of eye disorders, coronary artery diseases, atherosclerosis, myocardial infarction, ischemic stroke, thrombotic events, cancer development and progression, osteoporosis, neurodegenerative disorders, pregnancy complications, delayed healing processes, and poor COVID-19 outcomes, among others. This review focuses on the homocysteine metabolism impairments relevant for various pathological conditions. Innovative strategies in the framework of 3P medicine consider Hcy metabolic pathways as the specific target for in vitro diagnostics, predictive medical approaches, cost-effective preventive measures, and optimized treatments tailored to the individualized patient profiles in primary, secondary, and tertiary care.

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Section: Hhcy As a Risk Factor Of Impaired Healingmentioning

confidence: 97%

Homocysteine metabolism as the target for predictive medical approach, disease prevention, prognosis, and treatments tailored to the person

et al. 2021

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“…Glutathione (GSH) plays an important role in the cellular defense against peroxidative stress. In amino acid metabolic pathways, homocysteine is an intermediate amino acid that is metabolized from methionine to cysteine and has been shown to be associated with oxidative stress and endothelial damage [ 27 ]. Glutathione (GSH), superoxide dismutase (SOD), and glutathione peroxidase (GPX) are major antioxidant molecules in ECs [ 28 ].…”

Section: Resultsmentioning

confidence: 99%

Uncovering the Gene Regulatory Network of Endothelial Cells in Mouse Duchenne Muscular Dystrophy: Insights from Single-Nuclei RNA Sequencing Analysis

Shen

Kim

Hamrick

et al. 2023

Biology

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Introduction: Duchenne muscular dystrophy (DMD) is a severe X-linked recessive disorder caused by mutations in the dystrophin gene, which leads to heart and respiratory failure. Despite the critical impact of DMD on endothelial cells (ECs), there is limited understanding of its effect on the endothelial gene network. The aim of this study was to investigate the impact of DMD on the gene regulatory network of ECs. Methods and Results: To gain insights into the role of the dystrophin muscular dystrophy gene (DMD) in ECs from Duchenne muscular dystrophy; the study utilized single-nuclei RNA sequencing (snRNA-seq) to evaluate the transcriptomic profile of ECs from skeletal muscles in DMD mutant mice (DMDmut) and wild-type control mice. The analysis showed that the DMD mutation resulted in the suppression of several genes, including SPTBN1 and the upregulation of multiple long noncoding RNAs (lncRNAs). GM48099, GM19951, and GM15564 were consistently upregulated in ECs and skeletal muscle cells from DMDmut, indicating that these dysregulated lncRNAs are conserved across different cell types. Gene ontology (GO) enrichment analysis revealed that the DMD mutation activated the following four pathways in ECs: fibrillary collagen trimer, banded collagen fibril, complex of collagen trimers, and purine nucleotide metabolism. The study also found that the metabolic pathway activity of ECs was altered. Oxidative phosphorylation (OXPHOS), fatty acid degradation, glycolysis, and pyruvate metabolism were decreased while purine metabolism, pyrimidine metabolism, and one carbon pool by folate were increased. Moreover, the study investigated the impact of the DMD mutation on ECs from skeletal muscles and found a significant decrease in their overall number, but no change in their proliferation. Conclusions: Overall, this study provides new insights into the gene regulatory program in ECs in DMD and highlights the importance of further research in this area.

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A late diagnosis of hyperhomocysteinemia with probable evolution to verrucous elephantiasis nostra and leg ulcers

Cited by 2 publications

References 5 publications

Homocysteine metabolism as the target for predictive medical approach, disease prevention, prognosis, and treatments tailored to the person

Homocysteine metabolism as the target for predictive medical approach, disease prevention, prognosis, and treatments tailored to the person

Uncovering the Gene Regulatory Network of Endothelial Cells in Mouse Duchenne Muscular Dystrophy: Insights from Single-Nuclei RNA Sequencing Analysis

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