Study on the Role of ABCB1 and Glutathione S-transferase Gene Variants in the Association of Porphyria Cutanea Tarda and Human Immunodeficiency Virus Infection

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Study on the Role of ABCB1 and Glutathione S-transferase Gene Variants in the Association of Porphyria Cutanea Tarda and Human Immunodeficiency Virus Infection

September 1, 2021 Medicine and Medical 0

Porphyrias are a series of metabolic diseases caused by problems with heme production. Porphyria Cutanea Tarda (PCT) is a hepatic cutaneous Porphyria caused by a defect in Uroporphyrinogen decarboxylase, which can be acquired or inherited. The onset of this disease is influenced by triggering circumstances. In Argentina, PCT is highly linked to HIV infection; however, it is unknown whether the development of the disease is linked to HIV infection and/or antiretroviral therapy. The goal of our research was to look into the role of genetic variations in the development of Porphyrias. The goal of this study was to see if ABCB1 and GST genetic variations played a role in the link between PCT and HIV. The important reports on the role of drug metabolism in the start of PCT, particularly those involving cytochrome P-450 gene variations, were summarised in this article. Furthermore, we detailed our findings on the role of ABCB1 transporter and Glutathione S-transferases (GSTs) variations in the PCT-HIV association. Exon 12 (rs1128503, NM 000927.5: c.1236C>T), exon 21 (rs2032582, NM 000927.5: and c.2677G>T/A), and exon 26 (rs1045642, NM 000927.5: and c.3435C>T) are all ABCB1 gene variations that alter drug efflux. GSTT1 null, GSTM1 null, and GSTP1 (rs1695, NM 000852.4: and c.313A>G), gene variants that alter activity and modify xenobiotic levels, were genotyped. The high prevalence of c.3435C>T (PCT and PCT-HIV) and c.1236C>T (PCT) suggested that the beginning of PCT for these variations was unrelated to HIV infection or antiretroviral therapy. The frequency of c.2677G>T/A in PCT-HIV patients was higher than in the other groups, suggesting that antiretroviral treatment played a role in this connection. GSTT1 null variants were similarly common in PCT-HIV patients, although GSTM1 null variants were uncommon. A combination of the absence of GSTT1 and the presence of GSTM1 could represent the genetic basis for PCT onset. PCT-HIV patients had greater risk alleles than Controls, PCT, or HIV groups when all gene variants were considered. Finally, genes encoding proteins involved in the flow and metabolism of xenobiotics may influence the PCT-HIV relationship, revealing new information on the molecular basis of the PCT-HIV relationship.

Author (S) Details

Priscila Ayelén Pagnotta
Departamento de Química Biológica, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, 1428 Buenos Aires, Argentina and Laboratorio de Química de Proteoglicanos y Matriz Extracelular, Instituto de Biología y Medicina Experimental (IBYME), 1428 Buenos Aires, Argentina.

Viviana Alicia Melito
Departamento de Química Biológica, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, 1428 Buenos Aires, Argentina and Centro de Investigaciones sobre Porfirinas y Porfirias, Universidad de Buenos Aires, Argentina-Consejo Nacional de Investigaciones Científicas y Técnicas, Hospital de Clínicas José de San Martín, 1120, Buenos Aires, Argentina.

Jimena Verónica Lavandera
Cátedra de Bromatología y Nutrición, Facultad de Bioquímica y Ciencias Biológicas, Universidad Nacional del Litoral, 3000, Santa Fe, Argentina.

María Laura Buscalia
Centro de Investigaciones sobre Porfirinas y Porfirias, Universidad de Buenos Aires, Argentina-Consejo Nacional de Investigaciones Científicas y Técnicas, Hospital de Clínicas José de San Martín, 1120, Buenos Aires, Argentina.

Victoria Estela Parera
Centro de Investigaciones sobre Porfirinas y Porfirias, Universidad de Buenos Aires, Argentina-Consejo Nacional de Investigaciones Científicas y Técnicas, Hospital de Clínicas José de San Martín, 1120, Buenos Aires, Argentina.

María Victoria Rossetti
Centro de Investigaciones sobre Porfirinas y Porfirias, Universidad de Buenos Aires, Argentina-Consejo Nacional de Investigaciones Científicas y Técnicas, Hospital de Clínicas José de San Martín, 1120, Buenos Aires, Argentina.

Johanna Romina Zuccoli
Centro de Investigaciones sobre Porfirinas y Porfirias, Universidad de Buenos Aires, Argentina-Consejo Nacional de Investigaciones Científicas y Técnicas, Hospital de Clínicas José de San Martín, 1120, Buenos Aires, Argentina.

Ana Maria Buzaleh
Laboratorio de Química de Proteoglicanos y Matriz Extracelular, Instituto de Biología y Medicina Experimental (IBYME), 1428 Buenos Aires, Argentina and Centro de Investigaciones sobre Porfirinas y Porfirias, Universidad de Buenos Aires, Argentina-Consejo Nacional de Investigaciones Científicas y Técnicas, Hospital de Clínicas José de San Martín, 1120, Buenos Aires, Argentina.

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