New Insights into the Fanconi Anemia Pathogenesis: A Crosstalk Between Inflammation and Oxidative Stress DOI Open Access
Anna Repczyńska, Barbara Ruszkowska-Ciastek, Olga Haus

и другие.

International Journal of Molecular Sciences, Год журнала: 2024, Номер 25(21), С. 11619 - 11619

Опубликована: Окт. 29, 2024

Fanconi anemia (FA) represents a rare hereditary disease; it develops due to germline pathogenic variants in any of the 22 currently discovered FANC genes, which interact with anemia/breast cancer-associated (FANC/BRCA) pathway maintain genome integrity. FA is characterized by triad clinical traits, including congenital anomalies, bone marrow failure (BMF) and multiple cancer susceptibility. Due complex genetic background broad spectrum symptoms, diagnostic process requires use classical cytogenetic, molecular cytogenetics strictly methods. Recent findings indicate interplay inflammation, oxidative stress, disrupted mitochondrial metabolism, impaired intracellular signaling pathogenesis. Additionally, shift balance towards overproduction proinflammatory cytokines prooxidant components associated advanced myelosuppression ultimately BMF. Although mechanism BMF very needs further clarification, appears that mutual interaction between redox imbalance causes pancytopenia. In this review, we summarize available literature regarding phenotype, background, procedures FA. We also highlight current understanding autophagy process, state, pathways genotoxic stress

Язык: Английский

New Insights into the Fanconi Anemia Pathogenesis: A Crosstalk Between Inflammation and Oxidative Stress DOI Open Access
Anna Repczyńska, Barbara Ruszkowska-Ciastek, Olga Haus

и другие.

International Journal of Molecular Sciences, Год журнала: 2024, Номер 25(21), С. 11619 - 11619

Опубликована: Окт. 29, 2024

Fanconi anemia (FA) represents a rare hereditary disease; it develops due to germline pathogenic variants in any of the 22 currently discovered FANC genes, which interact with anemia/breast cancer-associated (FANC/BRCA) pathway maintain genome integrity. FA is characterized by triad clinical traits, including congenital anomalies, bone marrow failure (BMF) and multiple cancer susceptibility. Due complex genetic background broad spectrum symptoms, diagnostic process requires use classical cytogenetic, molecular cytogenetics strictly methods. Recent findings indicate interplay inflammation, oxidative stress, disrupted mitochondrial metabolism, impaired intracellular signaling pathogenesis. Additionally, shift balance towards overproduction proinflammatory cytokines prooxidant components associated advanced myelosuppression ultimately BMF. Although mechanism BMF very needs further clarification, appears that mutual interaction between redox imbalance causes pancytopenia. In this review, we summarize available literature regarding phenotype, background, procedures FA. We also highlight current understanding autophagy process, state, pathways genotoxic stress

Язык: Английский

Процитировано

0