Clinical, biochemical, and genetic features of a Spanish family with mitochondrial neurogastrointestinal encephalomyopathy are reported. The proband presented with severe gastrointestinal dysmotility and the affected sister had extraocular muscle weakness. In both affected individuals, biochemical defects of thymidine phosphorylase and a pathogenic G-to-A transition mutation at nucleotide 435 in the thymidine phosphorylase gene were identified. The first thymidine phosphorylase mutation identified in Spain showed phenotypic variability at onset.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1212/wnl.59.3.455 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Beyond Chemotherapy: Exploring 5-FU Resistance and Stemness in Colorectal Cancer.
Eur J Pharmacol
January 2025
School of Biotechnology, KIIT Deemed to be University, Bhubaneswar - 751024, Odisha, India. Electronic address:
Article Synopsis
- Colorectal cancer (CRC) presents ongoing global health challenges, particularly in overcoming treatment resistance in cancer stem cells (CSCs) and the limitations of 5-fluorouracil (5-FU) therapy.
- Combination therapies and targeted treatments, such as FOLFOXIRI and various monoclonal antibodies, can boost the effectiveness of 5-FU, especially in specific tumor types, but come with considerable toxicity.
- Advances in personalized medicine, immunotherapy, and nanomedicine are vital for improving treatment outcomes by addressing the complexities of CRC and enhancing drug delivery while reducing resistance to conventional therapies.
From Infection to Tumor: Exploring the Therapeutic Potential of Ciprofloxacin Derivatives as Anticancer Agents.
Pharmaceuticals (Basel)
January 2025
Department of Pharmaceutical Chemistry, Faculty of Pharmacy, Sohag University, Sohag 82524, Egypt.
Ciprofloxacin, a widely used second-generation fluoroquinolone for treating bacterial infections, has recently shown notable anticancer properties. This review explores progress in developing ciprofloxacin derivatives with anticancer properties, emphasizing key structural changes that improve their therapeutic effectiveness by modifying the basic group at position 7, the carboxylic acid group at position 3, or both. It further investigates the mechanisms by which these derivatives fight cancer, such as inducing apoptosis, arresting the cell cycle, inhibiting topoisomerase I and II, preventing tubulin polymerization, suppressing interleukin 6, blocking thymidine phosphorylase, inhibiting multidrug resistance proteins, and hindering angiogenesis.
View Article and Find Full Text PDFTranscription factor MAZ activates the transcription of hypomethylated TYMP in ccRCC.
Funct Integr Genomics
January 2025
School of Medical Technology, Tianjin Medical University, Tianjin, 300203, China.
Clear cell renal cell carcinoma (ccRCC) is a highly malignant tumor characterized by a significant propensity for recurrence and metastasis. DNA methylation has emerged as a critical epigenetic mechanism with substantial utility in cancer diagnosis. In this study, multi-omics data were utilized to investigate the target genes regulated by the transcription factor MYC-associated zinc finger protein (MAZ) in ccRCC, leading to the identification of thymidine phosphorylase (TYMP) as a gene with notably elevated expression in ccRCC.
View Article and Find Full Text PDFEradication of Cancer Cells Using Doxifluridine and Mesenchymal Stem Cells Expressing Thymidine Phosphorylase.
Bioengineering (Basel)
November 2024
Department of Chemical and Biological Engineering, University of Idaho, Moscow, ID 83844, USA.
Gene-directed enzyme prodrug therapy (GDEPT) has been developed over several decades as a targeted cancer treatment aimed at minimizing toxicity to healthy cells. This approach involves three key components: a non-toxic prodrug, a gene encoding an enzyme that converts the prodrug into an active chemotherapy drug, and a gene carrier to target cancer cells. In this study, the prodrug doxifluridine was enzymatically converted into the chemotherapy drug 5-fluorouracil via thymidine phosphorylase, using human mesenchymal stem cells (hMSCs) as delivery vehicles.
View Article and Find Full Text PDFRenal impairment as a risk factor for chemotherapy induced neutropenia in the treatment of trifluridine/thymidine phosphorylase inhibitor plus bevacizumab.
Sci Rep
January 2025
Department of Gastroenterological Surgery, Osaka Metropolitan University Graduate School of Medicine, 1-4-3 Asahi-machi Abeno-ku, Osaka City, 545-8585, Osaka Prefecture, Japan.
Although the phase III SUNLIGHT trial has demonstrated the survival benefit of the addition of bevacizumab (Bmab) to trifluridine/thymidine phosphorylase inhibitor (FTD/TPI), neutropenia, which frequently occurs during FDT/TPI + Bmab therapy, is a concern for clinicians. As TPI is excreted by the kidneys, the risk of adverse events is likely to be high in patients with an impaired renal function. This study aimed to investigate the relationship between renal impairment and the incidence of chemotherapy-induced neutropenia during FTD/TPI + Bmab therapy using real-world data.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!