8/19/2019 Xeroderma Pigmentosum Summary

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2.8.16 (HW#9) BMS 525, Spring Spencer Thomas

Summary: DiGiovanna and Kraemer, Shining a Light on XerdermaPigmentosum

Xeroerma !igmen"osm (X!) is "he res$" o% e%ec"s in "he canonica$&' amage repair (&&) nc$eo"ie e*cision repair ('+) pa"ha-,emp$o-e "o recognie an e*cise /$0- &' ac"s, primari$- a res$" o% 

$"raio$e" (3) sn amage. 4irs", escri/e in "he 19s as a pec$iarisorer o% sn sensi"ii"-, i" has no /een es"a/$ishe "ha" "he c$inica$pheno"-pes o% X!s, is "he res$" o% e%ec"s in one or more o% "he seen X!pro"eins (X!, X!B, X!&, X!+, X!7, X!4) reire %or '+ c$inica$$- name/- "he X! pro"ein e%ec". i"iona$$-, "he X! arian" (X!:3) c$inica$ isoreris "he res$" o% e%ec"s in a $o:%ie$i"- &' repair po$-merase, !o$ ;,emp$o-e "o /-pass 3:ince &' amage. To, c$inica$$- simi$ar, '+isorers, inc$ing 7oc0a-ne s-nrome (7S) an Trich"hio-s"roph- (TT&)hae %r"her es"a/$ishe ho e%ec"s in '+ can $ea "o he"erogenicmani%es"a"ions inc$ing ee$opmen"a$ isorers, pho"osensi"ii"-, anprogressie nero$ogica$ e"eriora"ion ('&) .

 The ma

8/19/2019 Xeroderma Pigmentosum Summary

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onse" in TT& are mch $ess s/s"an"ia$ in 7S, an re$a"ie$- a/sen" in X!.@i0eise, "he progressie '& na"re o/sere in X! an 7S is a/sen" in TT&,e$cia"ing "ha" "he Arecogni"ion X! pro"eins in CC:'+ (X!:7, X!:+) o no"hae irec"$- case '&s, -e" 7S pa"ien"s e*hi/i"ing m"an" T7:'+recogni"ion (7SB) i. The impor"ance o% "he arios '+ iseases an "heir

c$inica$ pheno"-pes hae grea"$- he$pe "o reso$e spp$emen"ar- ro$es o% '+ pro"eins, po"en"ia$$- inepenen" o% 3:ince &' amage.

4ina$$-, X! pa"ien"s are iea$ %or chemopreen"a"ie anchemo"herape"ic aancemen". s, cancer is a pheno"-pe associa"e i"himmor"a$i"-, high pro$i%era"ion, an "ranscrip"iona$ ac"ii"-, X! pa"ien"s anmoe$s are per%ec"$- si"e %or preen"ing o>:si"e "o*ici"- o% chemo"herape"ics. +pi"omie /- "he 1s"  chemopreen"a"ie rg /eingiscoere in an X! cohor" "ria$, "he a/i$i"- "o manip$a"e comp$emen"ar-repair pa"ha-s concomi"an" "o "arge"ing e%ec"s in ac"ie s. inac"iechroma"in is aan"ageos %or no" on$- ners"aning m"agenesis, /"$in0ing gene"ic pheno"-pes "o geno"-pica$ e"io$ogies. The speci?ci"- o% 3:

amage an m"a"iona$ signa"re o% 77DTT a$so imp$ica"es X! as moe$s-s"em %or "i$iing m"a"iona$ mo$ec$ar signa"res in preen"ion, iagnosis,an prognos"ic measres in cancer. $"ima"e$-, as or ners"aning o% "he&' repair an X! eo$es, so i$$ or a/i$i"- "o ho$is"ica$$- app$-preen"a"ie an pharmacogenomics "arge"e a" ma$ignancies an &'repair e%ec"s.