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A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency
Conclusion: We identified a novel non-sense mutation in MTHFR gene in a single Egyptian family with severe MTHFR deficiency. The present investigation is clinically important, as it adds to the growing list of MTHFR mutations, which might help in genetic counseling of families of affected children and proper genotype-phenotype correlation. Background Severe 5,10-Methylenetetrahydrofolate reductase (MTHFR; OMIM 236250) deficiency is a rare inborn error of metabolism and inherited in an autosomal recessive fashion. It is a very common disorder of folate metabolism and is clinically characterized with low plasma methion...
Source: Frontiers in Neurology - April 23, 2019 Category: Neurology Source Type: research

NAMPT as a Dedifferentiation-Inducer Gene: NAD+ as Core Axis for Glioma Cancer Stem-Like Cells Maintenance
Conclusion and Perspectives Gliomas are the most prevalent primary brain cancer in adults and include a broad category of tumors including astrocytoma, oligodendroglioma, and GBM. Regardless of tumor aggressiveness, malignancy, and infiltration, these glia-derived tumors rarely exceed a median survival time of 12–14 months. Driven by the infiltrative nature of these tumors, the clinical approach is difficult and relapses often occur with fatal consequences. These unsuccessful attempts to control glioma's fate have fostered research looking for more effective therapies. (GSCs) are a small subset of CD133&#...
Source: Frontiers in Oncology - May 2, 2019 Category: Cancer & Oncology Source Type: research

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