Publications by authors named "Maria Victoria Rossetti"
Article Synopsis
- Acute Hepatic Porphyrias (AHPs) are serious conditions causing neurological and abdominal symptoms due to issues in heme metabolism, with two main theories suggesting oxidative stress causes nerve damage.
- A study in Argentina examined families with Acute Intermittent Porphyria and Variegate Porphyria, focusing on clinical and biochemical factors and the link between porphyric attacks and oxidative stress.
- The research found no significant differences in oxidative stress or homocysteine levels between affected individuals and healthy controls, indicating that these markers may not be reliable indicators of neurological dysfunction in AHPs.
Article Synopsis
- In Argentina, porphyria cutanea tarda (PCT) is linked with HIV infection, but the relationship with HIV and antiretroviral therapy remains unclear.
- The study examines specific genetic variants that influence drug metabolism and their potential role in the onset of PCT among HIV-infected patients.
- Findings show that certain gene variants are more frequent in PCT patients, suggesting that genetics, along with antiretroviral therapy, may contribute to the development of PCT in those with HIV.
Background/aims: The porphyrias are genetically heterogeneous diseases, and each mutation is exclusive to one or two families. Among the mutations responsible for variegate porphyria in our country, c.1042_1043insT stands out, since it was described only in Argentina and is present in about 40% of genetically diagnosed families.
View Article and Find Full Text PDFPorphyrias are a group of metabolic diseases that arise from deficiencies in the heme biosynthetic pathway. A partial deficiency in hydroxymethylbilane synthase (HMBS) produces a hepatic disorder named Acute Intermittent Porphyria (AIP); the acute porphyria is more frequent in Argentina. In this paper we review the results obtained for 101 Argentinean AIP families and 6 AIP families from foreign neighbour countries studied at molecular level at Centro de Investigaciones sobre Porfirinas y Porfirias (CIPYP).
View Article and Find Full Text PDFArticle Synopsis
- Porphyrias are metabolic diseases impacting the skin and nervous system, with a case study of three patients diagnosed with variegate porphyria in 2008 revealing new mutations in the protoporphyrinogen oxidase gene.
- The identified mutations (c.338+3insT, c.807G>A, and c.808-1G>C) were suspected to affect splicing; RT-PCR tests indicated normal or no mRNA production, suggesting possible degradation of the altered transcripts.
- Minigene tests confirmed that these mutations cause exon skipping, which likely results in mRNA degradation and underscores their role in triggering the disease by disrupting normal splicing pathways.
Porphyria cutanea tarda (PCT) is caused by decreased activity of uroporphyrinogen decarboxylase (UROD) in the liver. The disease usually occurs in adulthood and is characterized by cutaneous photosensitivity, hyperpigmentation, skin fragility and hypertrichosis, due to the accumulation of porphyrins produced by oxidation of uroporphyrinogen and other highly carboxylated porphyrinogens overproduced as a result of the enzyme deficiency. PCT is generally sporadic, but about 20-30% of patients have familial-PCT (F-PCT) which is associated with heterozygosity of mutations in the UROD gene.
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