Station1:LeighsDisease

YES NO
Areinstructionscomplete?

Isaproteinproduced?

Istheproteinfoldedcorrectly?

Iswastedisposedof?

Cantheproteinexitthecell?

OverallResultintheCell:

Station2:HypomyelinatingDisorder

YES NO
Areinstructionscomplete?

Isaproteinproduced?

Istheproteinfoldedcorrectly?

Iswastedisposedof?

Cantheproteinexitthecell?

OverallResultintheCell:

Station3:ParkinsonsDisease

YES NO
Areinstructionscomplete?

Isaproteinproduced?

Istheproteinfoldedcorrectly?

Iswastedisposedof?

Cantheproteinexitthecell?

OverallResultintheCell:

Station4:AlzheimersDisease

YES NO
Areinstructionscomplete?

Isaproteinproduced?

Istheproteinfoldedcorrectly?

Iswastedisposedof?

Cantheproteinexitthecell?

OverallResultintheCell:

Station5:MaleInfertility

YES NO
Areinstructionscomplete?

Isaproteinproduced?

Istheproteinfoldedcorrectly?

Iswastedisposedof?

Cantheproteinexitthecell?

OverallResultintheCell:

Station6:KrabbeDisease

YES NO
Areinstructionscomplete?

Isaproteinproduced?

Istheproteinfoldedcorrectly?

Iswastedisposedof?

Cantheproteinexitthecell?

OverallResultintheCell:

Station7:Cancer

YES

NO

Areinstructionscomplete?

Isaproteinproduced?

Istheproteinfolded
correctly?

Iswastedisposedof?

Cantheproteinexitthecell?

OverallResultintheCell:

Station8:CysticFibrosis

YES NO
Areinstructionscomplete?

Isaproteinproduced?

Istheproteinfoldedcorrectly?

Iswastedisposedof?

Cantheproteinexitthecell?

OverallResultintheCell:

Matcheachscenariotothecorrectcondition.Provideevidenceandexplainyourreasoning.

1.Thisdiseasecausesdementia,orlossofbrainfunction.Itaffectsthepartsofthebrainthatare
importantformemory,thought,andlanguage.Thebrainofapersonwiththediseasecontains
abnormalclumpsofcellulardebrisandprotein(plaques)andcollapsedmicrotubules(support
structuresinsidethecell).Microtubulecollapseiscausedbyamalfunctioningproteincalledtau,
whichnormallystabilizesthemicrotubules.Inpatientswiththisdisease,tauproteinsinsteadcluster
togethertoformdisablingplaquesandtangles.Theseplaquesandtanglesdamagethehealthycells
aroundthem,leadingtocelldeath.

Condition:

Evidence:

Reasoning:

2.Thisisaninheriteddiseasecharacterizedbythebuildupofthick,stickymucusthatcandamage
manyofthebody'sorgans.Thedisorder'smostcommonsignsandsymptomsincludeprogressive
damagetotherespiratorysystemandchronicdigestivesystemproblems.
MutationsintheCFTRgenedisruptthefunctionofthechloridechannels,preventingthemfrom
regulatingtheflowofchlorideionsandwateracrosscellmembranes.Asaresult,cellsthatlinethe
passagewaysofthelungs,pancreas,andotherorgansproducemucusthatisunusuallythickand
sticky.Thismucusclogstheairwaysandvariousducts.Overtime,mucusbuildupandinfections
resultinpermanentlungdamage,includingtheformationofscartissueinthelungs.

Condition:

Evidence:

Reasoning:

3.Peoplewiththisdisorderexperienceafailureinspermatogenesisbecausenotenoughproteinis
beingproducedtosupportthelargedemandforribosomesduringspermdevelopment.With
malfunctioningribosomes,spermcellscantbemanufactured.

Condition:

Evidence:

Reasoning:

4.Thisdiseaseisarareinheritedneurometabolicdisorderthataffectsthecentralnervoussystem.
Thisprogressivedisorderbeginsininfantsbetweentheagesofthreemonthsandtwoyears.The
earliestsignsmaybepoorsuckingability,andthelossofheadcontrolandmotorskills.Asthe
disorderprogresses,symptomsmayalsoincludegeneralizedweakness,lackofmuscletone,and
impairmentofrespiratoryandkidneyfunction.Thereisachroniclackofenergyinthecells,whichin
turnaffectsthecentralnervoussystemandcausesprogressivedegenerationofmotorfunctions.

Condition:

Evidence:

Reasoning:

5.Thisdiseaseistheresultofthelossofdopamineproducingbraincells.Thefourprimarysymptoms
aretremor,ortremblinginhands,arms,legs,jaw,andfacerigidity,orstiffnessofthelimbsand
trunkslownessofmovementandposturalinstability,orimpairedbalanceandcoordination.Asthese
symptomsbecomemorepronounced,patientsmayhavedifficultywalking,talking,orcompleting
othersimpletasks.Itusuallyaffectspeopleovertheageof50.Importantproteinsarefolded
incorrectlyinthecellandcausestresstocellularstructures.

Condition:

Evidence:

Reasoning:

6.Thisisadegenerativedisorderthataffectsthenervoussystem.Itiscausedbytheshortage
(deficiency)ofanenzymecalledgalactosylceramidase.Thisenzymedeficiencyimpairsthegrowth
andmaintenanceofmyelin,theprotectivecoveringaroundcertainnervecellsthatensurestherapid
transmissionofnerveimpulses.Thesymptomsofthediseaseusuallybeginbeforetheageof1year.
Initialsignsandsymptomstypicallyincludeirritability,muscleweakness,feedingdifficulties,episodes
offeverwithoutanysignofinfection,stiffposture,andslowedmentalandphysicaldevelopment.As
thediseaseprogresses,musclescontinuetoweaken,affectingtheinfant'sabilitytomove,chew,
swallow,andbreathe.Affectedinfantsalsoexperiencevisionlossandseizures.Adefectiveprotein
calledGalactocerebrosidegalactosidasecauseswastestobuildupinthelysosome.Thesewastes
interferewithenzymepathways.

Condition:

Evidence:

Reasoning:

7.Genesaremadeupofdeoxyribonucleicacid(DNA)andarefoundineachcellinyourbody.Genes
controlhoweachcellfunctions,includinghowquicklyitgrows,howoftenitdivides,andhowlongit
lives.Genescontrolhowyourcellsworkbymakingproteinsthathavespecificfunctionsandactas
messengersforthecell.Therefore,itisessentialthateachgenehavethecorrectinstructionsor
"code"formakingitsproteinsothattheproteincanperformthecorrectfunctionforthecell.This
diseasebeginswhenoneormoregenesinacellaremutated(changed),creatinganabnormal
proteinornoproteinatall.Theinformationprovidedbyanabnormalproteinisdifferentfromthatofa
normalprotein,whichcancausecellstomultiplyuncontrollably.


Condition:

Evidence:

Reasoning:

8.Thisisageneticdisorderthataffectsthecontrolofmusclemovement.Itiscausedbyalossof
specializednervecells,calledmotorneurons,inthespinalcordandthepartofthebrainthatis
connectedtothespinalcord(thebrainstem).Thelossofmotorneuronsleadstoweaknessand
wasting(atrophy)ofmusclesusedforactivitiessuchascrawling,walking,sittingup,andcontrolling
headmovement.Inseverecasesofspinalmuscularatrophy,themusclesusedforbreathingand
swallowingareaffected.Amutationinagenecausesaproteintostopbeingproduced,andgranules
accumulateintheGolgiApparatus.

Condition:

Evidence:

Reasoning:

REFERENCES
http://ghr.nlm.nih.gov/condition/cysticfibrosis
http://www.sciencedirect.com/science/article/pii/S0167488908004175
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2965583/
http://learn.genetics.utah.edu/content/disorders/multifactorial/alzheimers/
http://circres.ahajournals.org/content/101/10/975.full
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3794802/
http://www.ninds.nih.gov/disorders/leighsdisease/leighsdisease.htm
http://ghr.nlm.nih.gov/condition/spinalmuscularatrophy
http://www.ninds.nih.gov/disorders/parkinsons_disease/parkinsons_disease.htm
http://www.hindawi.com/journals/omcl/2013/239854/
http://ghr.nlm.nih.gov/condition/krabbedisease
http://www.cancer.net/navigatingcancercare/cancerbasics/genetics/geneticscancer