bme 301 presentation

8/2/2019 BME 301 Presentation

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AndersensSyndrome (Ik1)

Team 1 Members:(1) Wandi Zhu(2) Junaid Ikram(3) Min Yang(4) Yunfei Cao(5) Harrison Seidner(6) Griffin St. Clair http://www.wix.com/33593300/bme301
http://www.wix.com/33593300/bme301http://www.wix.com/33593300/bme301http://www.wix.com/33593300/bme301


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Andersens Syndrome

What are the other names?Andersen-Tawil syndrome

ATS

Long QT syndrome 7LQT7

Andersen cardiodysrhythmic periodic

paralysisPeriodic paralysis, potassium-sensitive

cardiodysrhythmic typehttp://ghr.nlm.nih.gov/condition/andersen-tawil-syndrome

http://www.heart-consult.com/sites/default/files/diff%20lq.jpg


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Anderson Syndrome

What is Andersen-Tawil syndrome?

Anderson-Tawil syndrome:

Episodes of muscle weakness (periodic

paralysis).Changes in heart rhythm (arrhythmia).

Developmental abnormalities affect the head,

face, limbs and skeletal system.http://ghr.nlm.nih.gov/condition/andersen-tawil-syndrome


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ATS Dysmorphic Features:

Face: A very small lower jaw dental abnormalities(micrognathia), Low-set ears, widely spaced eyes.

Limbs: Unusual curving of the fingers or toes(clinodactyly).

Skeletal System: Short stature and an abnormalcurvature of the spine (scoliosis).

http://download.ajhg.org/images/journalimages/0002-9297/PIIS0002929707603486.gr2_lrg.hi.jpghttp://www.scielo.br/img/revistas/anp/v64n3a/a09fig01.gifhttp://ghr.nlm.nih.gov/condition/andersen-tawil-syndrome


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Types of Andersen-Tawilsyndrome:

What are the type of ATS?

Type 1: About 60 % is caused by mutations inthe KCNJ2 gene.

Type 2: About 40 % is caused by unknownreasons.

http://ghr.nlm.nih.gov/condition/andersen-tawil-syndrome


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KCNJ2

What is KCNJ2?KCNJ2: potassium (K) inwardly-rectifyingchannel (CN) , subfamily J, member 2.

locus | chromosome 17 | q23.1

strand | plus

coordinates | 68165676 to 68176185

10.51 kbp (kilobase pairs)

http://ghr.nlm.nih.gov/gene/KCNJ2

http://www.wolframalpha.com/input/?i=KCNJ2


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KCNJ2 Ontology

What is the ontology of KCNJ2?Functions:protein binding | potassium ion binding |voltage-gated ion channel activity | inward

rectifier potassium channel activity (Kir2.1)Locations:dendrite | membrane | cell soma | integral toplasma membraneProcesses:ion transport | potassium ion transport

http://www.wolframalpha.com/input/?i=KCNJ2


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KCNJ2 Gene and itsProducts

What are other names for the KCNJ2 gene or geneproducts? cardiac inward rectifier potassium channel HHBIRK1

HHIRK1 HIRK1 inward rectifier K+ channel KIR2.1 IRK1 IRK2_HUMAN

KIR2.1 LQT7 potassium inwardly-rectifying channel J2

http://ghr.nlm.nih.gov/gene/KCNJ2


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Diversity of KIr Family

http://www-personal.umich.edu/~alopatin/Learn%20Kir%20Channels.htm#AP


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KCNJ2 Gene Pathology

What is the relation of KCNJ2 with ATS? 20 mutations in the KCNJ2 gene associated with ATS. Lead to the production of a nonfunctional potassium

channel. Change the shape of the channel. Insert incorrectly into the cell membrane. Prevent PIP2 from effectively binding to and

activating potassium channels. Potassium ions are unable to flow into or out of the

cell. Episodes of muscle weakness (periodic paralysis).

An irregular heart rhythm.http://www.wolframalpha.com/input/?i=KCNJ2


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KCNJ2 Gene Expression

Which organs have more KCNJ2 gene expression?

http://www.ebi.ac.uk/gxa/gene/ENSG00000123700?ef=organism_part#efo=EFO_0000827


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KCNJ2 Gene Expression

KCNJ2 Gene Expression in muscles:

http://jcb.rupress.org/content/153/4/677.full.pdf


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Works Cited:

1) http://ghr.nlm.nih.gov/condition/andersen-tawil-syndrome2) http://heart-consult.com/articles/long-qt-syndrome-lqtssymptomscausesdiagnosis-and-treatment

3) http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=413

4) http://ghr.nlm.nih.gov/gene/KCNJ2

5) http://www.wolframalpha.com/input/?i=KCNJ2

6) http://www-personal.umich.edu/~alopatin/Learn%20Kir%20Channels.htm#AP

7) http://www.ebi.ac.uk/gxa/gene/ENSG00000123700?ef=organism_part#efo=EFO_0000827

8) http://jcb.rupress.org/content/153/4/677.full.pdf
http://ghr.nlm.nih.gov/condition/andersen-tawil-syndromehttp://heart-consult.com/articles/long-qt-syndrome-lqtssymptomscausesdiagnosis-and-treatmenthttp://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=413http://ghr.nlm.nih.gov/gene/KCNJ2http://www.wolframalpha.com/input/?i=KCNJ2http://www-personal.umich.edu/~alopatin/Learn%20Kir%20Channels.htmhttp://www.ebi.ac.uk/gxa/gene/ENSG00000123700?ef=organism_parthttp://jcb.rupress.org/content/153/4/677.full.pdfhttp://jcb.rupress.org/content/153/4/677.full.pdfhttp://jcb.rupress.org/content/153/4/677.full.pdfhttp://jcb.rupress.org/content/153/4/677.full.pdfhttp://www.ebi.ac.uk/gxa/gene/ENSG00000123700?ef=organism_parthttp://www.ebi.ac.uk/gxa/gene/ENSG00000123700?ef=organism_parthttp://www-personal.umich.edu/~alopatin/Learn%20Kir%20Channels.htmhttp://www-personal.umich.edu/~alopatin/Learn%20Kir%20Channels.htmhttp://www-personal.umich.edu/~alopatin/Learn%20Kir%20Channels.htmhttp://www-personal.umich.edu/~alopatin/Learn%20Kir%20Channels.htmhttp://www.wolframalpha.com/input/?i=KCNJ2http://www.wolframalpha.com/input/?i=KCNJ2http://www.wolframalpha.com/input/?i=KCNJ2http://ghr.nlm.nih.gov/gene/KCNJ2http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=413http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=413http://heart-consult.com/articles/long-qt-syndrome-lqtssymptomscausesdiagnosis-and-treatmenthttp://heart-consult.com/articles/long-qt-syndrome-lqtssymptomscausesdiagnosis-and-treatmenthttp://heart-consult.com/articles/long-qt-syndrome-lqtssymptomscausesdiagnosis-and-treatmenthttp://heart-consult.com/articles/long-qt-syndrome-lqtssymptomscausesdiagnosis-and-treatmenthttp://heart-consult.com/articles/long-qt-syndrome-lqtssymptomscausesdiagnosis-and-treatmenthttp://heart-consult.com/articles/long-qt-syndrome-lqtssymptomscausesdiagnosis-and-treatmenthttp://heart-consult.com/articles/long-qt-syndrome-lqtssymptomscausesdiagnosis-and-treatmenthttp://heart-consult.com/articles/long-qt-syndrome-lqtssymptomscausesdiagnosis-and-treatmenthttp://heart-consult.com/articles/long-qt-syndrome-lqtssymptomscausesdiagnosis-and-treatmenthttp://heart-consult.com/articles/long-qt-syndrome-lqtssymptomscausesdiagnosis-and-treatmenthttp://heart-consult.com/articles/long-qt-syndrome-lqtssymptomscausesdiagnosis-and-treatmenthttp://heart-consult.com/articles/long-qt-syndrome-lqtssymptomscausesdiagnosis-and-treatmenthttp://heart-consult.com/articles/long-qt-syndrome-lqtssymptomscausesdiagnosis-and-treatmenthttp://ghr.nlm.nih.gov/condition/andersen-tawil-syndromehttp://ghr.nlm.nih.gov/condition/andersen-tawil-syndromehttp://ghr.nlm.nih.gov/condition/andersen-tawil-syndromehttp://ghr.nlm.nih.gov/condition/andersen-tawil-syndromehttp://ghr.nlm.nih.gov/condition/andersen-tawil-syndrome

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