Mitochondrial respiratory complex I defects in Fanconi anemia

Transcriptional Regulation of the Human Genes that Encode DNA Repair- and Mitochondrial Function-Associated Proteins

“…A number of additional DNA repair factors associate with FA proteins [40]. Recent study of transcripts from bone marrow cells revealed that FA patients have deficiencies in mitochondrial, redox and DNA repair pathways [41,42]. Another DNA-repair deficient disease is Ataxia Telangiectasia (AT) that is caused by mutations on the ATM gene [43].…”

Treatment of FANCA Cells with Resveratrol and N-Acetylcysteine: A Comparative Study

“…FANCA cells display an altered red-ox metabolism [4]. The possibility to improve this altered physiological conditions with the employment of antioxidants has been consequently forwarded/proposed.…”

“…A defective respiration at the mitochondrial oxidative phosphorylation complex I is associated with a reduced ATP production and altered ATP/AMP ratio. These defects are consistently associated with impaired oxygen metabolism [4]. Therefore the possibility to improve FA patients physiological state with antioxidants as therapy adjuvants appears promising.…”

Altered Calcium and Red-ox homeostasis underline defective haematopoiesis in Fanconi Anemia

“…This deficiency might be associated with an intrinsic functional defect in FA mitochondria. Interestingly enough, mitochondria appear to play a role as cell-fate determinants in the asymmetry HSC self-renewal process [65] and we contributed to thoroughly describe the mitochondrial functional defect in FA [53,54,55,66] . On the other hand, it was shown that intra-mitochondrial Ca 2+ can control oxidative phosphorylation, i.e., indirectly, the ROS production.…”

“…Concerning FA we recently contribute to describe several defects associated with structural elements (lamin and mitofilin), metallo-proteinases, morphological and functional elements (mitochondria and nuclei) [53,54,55,56] . These defects were essentially viewed in the single perspective of a red-ox unbalance, as treatment with selected antioxidants generally restored physiological conditions.…”