Monogenic Diseases

Plegable Biología Molecular 2017 - 1

1. MonogenicDiseases
Andrea Jaramillo Cerezo
Medicine Student
2017 -1

4. Introduction
Positionalcloningin action
isa laboratorytechnique
thatallowsusto localize
thepositionof a gene in a
chromosomethatisdirectly
associatedwitha disease.
Wecan use itevenwhen
wedontknowthechemical
bases of thedisease
Thegene isolationisusefulfor:
-Identifythecarriers
of thedisease
-Detectthemutations
foranaccuratediagnostic
-Developsomegene
therapyorrecombinant
proteinsfortreatment
-Understandthe
biochemestryand
pathologyprocess

5. Cracking thecodeof
Huntington'sdisease
2017, March23
EcolePolytechniqueFédéralede Lausanne

6. Peoplewith
Huntington’sdisease
(More than36 Glutamine)
Cracking thecodeof Huntington'sdisease
Huntingtin
Isa proteintranscribedfromthegene
IT15orHuntingtingene. It’sfunction
hasn’tbeenenlightened, butwe
knowisessentialforbrain
developmentand protectingagainst
apoptosis
Normal people
(6 to 35 Glutamine)
AutosomalDominant
Irritability
Personality
changes
Involuntary
movements

7. Cracking thecodeof Huntington'sdisease
Theotheramino acid
mimicthechargeof the
phosphategroup,
demonstratingtheydon’t
needto knowallthe
specificprocess
Thisisreducedin HD.
Theywantto use thesemodificationsas disease
biomarkersforearlydiagnosisand
monitoringdiseaseprogression

8. Cracking thecodeof Huntington'sdisease
Post translationalmodification
Isanenzymaticprocessthatmodify
theproteinafterit’sbiosynthesis. It
consistin aditionnew groupsor
modifyingoneexistinggroup
Thisisusfulforthecellto buildup
thefinal structuralleveland isthe
laststepof theprotein
biosynthesis

9. Cracking thecodeof Huntington'sdisease
Student’sobservation
I thinkthisisanexcelentdevelopmentbecause
thisstrategyisfocusnotonlyin reduce thesymtoms
of theHuntingtin’saggregation.
It’simportantthatthisstudycan helpalsoto identify
biomarkersbecauseifwecan startthetretmentoptions
beforetheapparitionof severesignswecan expecta
betterprognosisforthepatients.

10. Vitaminscouldhelptreat
cysticfibrosis
2017, March27
Queen'sUniversityBelfast

11. Vitaminscouldhelptreatcysticfibrosis
Cysticfibrosis Autosomalrecessivedisorder
Mutationin BOTH copies of thegene thatcodifies
CFTR protein(CysticFibrosis Transmembrane
ConductanceRegulator)implicatedin chloride
ion channelfunction
Thesecretions(principallyin lungs) becomethick
affectingthemucociliaryclearance
High percentageof INFECTIONS(maincomplicationin CF)

12. Vitaminscouldhelptreatcysticfibrosis
As theCF patientsare receivinga lotof
antibioticsfortheirfrecuentlylung
infections, eachtime theyare infectedby
more resistantbacteria thatcan livein
thathostileenvironment.
Theprincipal
multiresistantbacteria
thataffectsCF patients
iscalledBurkholderia
cenocepacia, and
associatedwithan
exacerbationof
respiratoyry
symptomps,
deteriorationof lung
functionand death

13. Vitaminscouldhelptreatcysticfibrosis
Withoutfat-soluble vitamins
Lipocalin Antibiotic
Bacteria stillgrowing
Lipocalin Antibiotic
Lipocalin
Antibiotic
can attack
thebacteria
Withfat-soluble vitamins

14. Vitaminscouldhelptreatcysticfibrosis
I thinkthisisa hugeadvanceto
counteractthebacteria
resistancethatcan be aplied, in a
future, fornotonlyinfectionsin cystic
fibrosis. Alsothisisso greatforCF
patientbecausetheyhaveto livewith
theriskof gettinganinfectionin every
place thatcan killthem.
Student’sobservation

15. Medical Utility

16. Theuse of fat-soluble vitaminscouldbe
usedbythemedical communityas an
alternativeto potentiatethe
effectof someantibioticsinsteadof
changethem, becausewealreadyhave
a bigproblemwithantibiotic
resistancein thistypeof patientsthat
in sometime aren’tgoingto be ableto
receiveantibiotics.
Medical Utility

17. WiththeHuntington’s
diseaseinvestigationtheycan
show to otherinvestigation
groupshowchangingthe
structureof some
proteinsthatcause some
diseases, can be helpfulto
reduce theseproteins
potentialof causing
somedamageswithout
knowingthecomplete proces
of thatproteinsynthesis.
Medical Utility

18. It’sveryimportantfor
theactual medicine to
investigatein thistypesof
pathologiesbecausein
thismomenttheydon’t
havea cureand they
can onlybe preventedby
someprocessesthat
aren’tcommonas genetic
counselingorgenetic
therapy.
Medical Utility

19. Bibliography
ØEcolePolytechniqueFédéralede Lausanne.
(2017, March23). Cracking thecodeof
Huntington'sdisease. ScienceDaily.
RetrievedMarch29, 2017 from
www.sciencedaily.com/releases/2017/03/1
70323125502.htm
ØQueen'sUniversityBelfast. (2017, March
27). Vitaminscouldhelptreatcysticfibrosis,
researchfinds. ScienceDaily. Retrieved
March28, 2017 from
www.sciencedaily.com/releases/2017/03/1
70327100742.htm
ØMARTINEZ SÁNCHEZ, Lina María. Biología
molecular. 2. ed. Medellín: UPB. Fac. de
Medicina,2006. 215-220 p.

20. “Itisnotourdifferences
thatdivide us. Itisour
inabilitytorecognize, accept,
and celebratethose
differences”
-AudreLorde