Publications by authors named "Y Malthiery"
Article Synopsis
- Acute intermittent porphyria (AIP) is a genetic disorder caused by a deficiency of the enzyme hydroxymethylbilane synthase (HMBS), affecting heme production and primarily impacting the nervous system.
- Research on Hmbs(-/-) mice revealed alterations in mitochondrial oxidative phosphorylation (OXPHOS), showing an initial adaptive response to HMBS deficiency, followed by significant changes due to phenobarbital treatment.
- Treatment with heme arginate (HA) mitigated the reduction in ATP production in skeletal muscle, indicating that both neurotoxicity from certain compounds and mitochondrial dysfunction are vital in understanding AIP's effects.
Heme biosynthesis begins in the mitochondrion with the formation of delta-aminolevulinic acid (ALA). In acute intermittent porphyria, hereditary tyrosinemia type I and lead poisoning patients, ALA is accumulated in plasma and in organs, especially the liver. These diseases are also associated with neuromuscular dysfunction and increased incidence of hepatocellular carcinoma.
View Article and Find Full Text PDFArticle Synopsis
- Acute intermittent porphyria (AIP) is a genetic liver disorder caused by a deficiency in the HMBS enzyme, leading to dangerous attacks due to high production of 5-aminolaevulinic acid (ALA).
- A study using Hmbs knockout mice treated with phenobarbital showed significant impairments in mitochondrial respiratory chain and TCA cycle activities.
- Treatment with heme arginate after phenobarbital helped restore some metabolic function, highlighting potential therapeutic strategies to mitigate the effects of AIP on mitochondrial energy metabolism.
Lindane (LD) is a persistent environmental pollutant that has been the subject of several toxicological studies. However, concentrations used in most of the reported studies were relatively higher than those found in the blood of the contaminated area residents and effects of low concentrations remain poorly investigated. Moreover, effects on cell metabolism and mitochondrial function of exposure to LD have received little attention.
View Article and Find Full Text PDFContext: Focusing on mitochondrial function and thyroid tumorigenesis, we used an integrative approach to identify relevant biomarkers for borderline thyroid lesions.
Design: Using cDNA and microRNA (miRNA) microarrays and quantitative RT-PCR analysis (qPCR), we explored samples of various types of thyroid tumors including 25 benign follicular adenomas represented by macrofollicular variants of thyroid adenomas, 38 oncocytic variants of follicular thyroid tumors, 19 papillary thyroid carcinomas, and 10 tumors of uncertain malignant potential, together with 53 normal thyroid tissue samples.
Results: Our transcriptomic analysis, which highlighted discrepancies between controls and tumor tissues, as well as between various tumor types, led to the identification of 13 genes, allowing discrimination between the thyroid adenomas, oncocytic variants of follicular thyroid tumors, and papillary thyroid carcinomas, whereas the tumors of uncertain malignant potential were found to overlap these classes.