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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/bme3018/2/2019 BME 301 Presentation
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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-syndromeTop Related