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Property "Has-20abstract" (as page type) with input value "Li-2DFraumeni-20Syndrome-20(LFS)-20and-20Li-2DFraumeni-2Dlike-20Syndrome-20(LFL)-20are-20inherited-20disorders,-20associated-20to-20TP53-20germline-20mutations-20and-20characterized-20by-20increased-20predisposition-20to-20multiple-20early-2Donset-20cancers-20-5B1-5D.-20Studies-20in-20families-20from-20Southern-20and-20Southeastern-20Brazil-20with-20LFS-2FLFL-20phenotype-20have-20identified-20a-20germline-20founder-20mutation-20in-20the-20TP53-20gene,-20the-20p.R337H-20mutation-20(c.1010G-3EA),-20in-20a-20high-20population-20prevalence-20(~0.3-25)-20-5B2-5D.-20Unlike-20the-20majority-20of-20the-20mutations-20in-20TP53,-20which-20are-20missense-20mutations-20located-20in-20the-20DNA-2Dbinding-20domain-20(DBD)-20of-20the-20protein-20(exons-205-2D8),-20the-20TP53-20p.R337H-20(c.1010G-3EA)-20is-20located-20in-20exon-2010,-20corresponding-20to-20the-20oligomerization-20domain-20(OD).-20The-20p53-20nuclear-20phosphoprotein-20is-20known-20for-20its-20functions-20in-20the-20DNA-20damage-20response-20and-20apoptosis.-20Recently,-20this-20protein-20has-20been-20shown-20to-20regulate-20many-20aspects-20of-20energy-20metabolism-20as-20well-20as-20enzymes-20that-20are-20involved-20in-20cell-20responses-20to-20oxidative-20stress,-20manly-20through-20TIGAR-20activation-20-5B3-5D.-0A-0AIn-20a-20previous-20work,-20we-20analyzed-20the-20levels-20of-20several-20markers-20of-20oxidative-20stress-20responses-20in-20blood-20samples-20of-20p.R337H-20mutation-20carries-20and-20non-2Dcarries.-20We-20observed-20oxidative-20damage-20in-20lipids-20and-20proteins.-20Moreover,-20there-20was-20increased-20erythrocyte-20GPx-20activity,-20as-20well-20as-20increased-20total-20antioxidant-20status-20in-20the-20p.R337H-20mutation-20carries-20-5B4-5D.-20Therefore,-20our-20study-20was-20able-20to-20establish-20the-20relationship-20of-20oxidative-20stress-20with-20the-20loss-20of-20function-20of-20p53.-20-0A-0AThe-20aim-20of-20this-20work-20was-20to-20evaluate-20the-20association-20between-20TP53-20germline-20mutations-20with-20deregulation-20of-20cell-20bioenergetics.-20For-20this-20purpose,-20we-20performed-20high-2Dresolution-20respirometry-20(HHR)-20of-20intact-20human-20fibroblast-20cells,-20derived-20from-20patients.-20Preliminary-20results-20showed-20a-20distinct-20pattern-20of-20HHR-20in-20different-20TP53-20germline-20mutations-20genotypes.-20Fibroblasts-20from-20carriers-20of-20DBD-20mutations-20and-20wt-2Fp.R337H-20showed-20higher-20ROUTINE,-20total-20and-20extramitochodrial-20respiration,-20as-20well-20as-20LEAK-20respiration,-20compared-20to-20p.R377H-2Fp.R337H-20mutants-20and-20WT-2FWT-20cells.-20In-20agreement-20with-20HHR-20results,-20cells-20with-20DBD-20mutation-20showed-20increased-20ROS-20(reactive-20oxygen-20species)-20by-20DCF-20assay.-20On-20the-20other-20hand-20an-20unexpectedly-20high-20production-20was-20found-20of-20ROS-20by-20p.R377H-2Fp.R337H.-20These-20data-20were-20correlated-20with-20antimetabolic-20drug-20sensitivity,-20mitochondrial-20membrane-20potential-20and-20cellular-20doubling-20time-20to-20better-20evaluate-20the-20potential-20role-20of-20these-20findings-20for-20the-20increased-20predisposition-20to-20multiple-20early-2Donset-20cancers-20presented-20by-20Li-2DFraumeni-20patients." contains invalid characters or is incomplete and therefore can cause unexpected results during a query or annotation process.

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