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Andersens Syndrome (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

Andersens Syndrome
What are the other names? Andersen-Tawil syndrome ATS Long QT syndrome 7 LQT7 Andersen cardiodysrhythmic periodic paralysis Periodic paralysis, potassium-sensitive cardiodysrhythmic type
http://ghr.nlm.nih.gov/condition/andersen-tawil-syndrome http://www.heart-consult.com/sites/default/files/diff%20lq.jpg

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.

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 abnormal curvature of the spine (scoliosis).
http://download.ajhg.org/images/journalimages/0002-9297/PIIS0002929707603486.gr2_lrg.hi.jpg http://www.scielo.br/img/revistas/anp/v64n3a/a09fig01.gif http://ghr.nlm.nih.gov/condition/andersen-tawil-syndrome

Types of Andersen-Tawil syndrome:

What are the type of ATS? Type 1: About 60 % is caused by mutations in the KCNJ2 gene. Type 2: About 40 % is caused by unknown reasons.

What is KCNJ2? KCNJ2: potassium (K) inwardly-rectifying channel (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

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 to plasma membrane Processes: ion transport | potassium ion transport

KCNJ2 Gene and its Products

What are other names for the KCNJ2 gene or gene products? 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

Diversity of KIr Family


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.

KCNJ2 Gene Expression

Which organs have more KCNJ2 gene expression?


KCNJ2 Gene Expression

KCNJ2 Gene Expression in muscles:


Works Cited:
1) 2) 3) 4) 5) 6) 7) 8) http://ghr.nlm.nih.gov/condition/andersen-tawil-syndrome http://heart-consult.com/articles/long-qt-syndrome-lqtssymptomscausesdiagnosis-and-treatment http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=413 http://ghr.nlm.nih.gov/gene/KCNJ2 http://www.wolframalpha.com/input/?i=KCNJ2 http://www-personal.umich.edu/~alopatin/Learn%20Kir%20Channels.htm#AP http://www.ebi.ac.uk/gxa/gene/ENSG00000123700?ef=organism_part#efo=EFO_0000827 http://jcb.rupress.org/content/153/4/677.full.pdf