- Introduction
- Popular Press Article Review
- Scientific Article Review
- Popular Press vs. Scientific Article
- Gene
- Gene homology
- Gene motif
- Gene ontology
- microarray
- Protein
- Protein homology/ phylogeny
- Protein motif/ domain
- Protein 3D structure
- Protein interaction
- Future direction
This web page was produced as an assignment for Genetics 677, an undergraduate course at UW-Madison.
Overview
Pulmonary hypertension is a rare lung disease that shows increased blood pressure due to arterial remodeling. Usually, this pulmonary arterial hypertension is divided into 2 categories, which are primary pulmonary arterial hypertension (PPAH) and secondary pulmonary arterial hypertension (SPAH). PPAH is caused by various factors, while SPAH is a side effect of another disease. PPAH is caused by various factors, such as arterial wall thickening or mutation in a certain gene, BMPR2.
The average of normal pulmonary arterial pressure is 15 mmHg at rest. In contrast, patients of pulmonary hypertension indicate higher average blood pressure—22mmHg at rest and 30 mmHg during movement.
The prevalence of the disease is very low. According to current statistics, 30-50 cases per million is reported. In addition, this prevalence is not associated with a particular cause. The number is general prevalence for all causes of pulmonary arterial hypertension.
The average of normal pulmonary arterial pressure is 15 mmHg at rest. In contrast, patients of pulmonary hypertension indicate higher average blood pressure—22mmHg at rest and 30 mmHg during movement.
The prevalence of the disease is very low. According to current statistics, 30-50 cases per million is reported. In addition, this prevalence is not associated with a particular cause. The number is general prevalence for all causes of pulmonary arterial hypertension.
Cause
One or more causes may associate with the disease. However, not all causes have been identified at current research stage.
Possible causes: Thickening of arterial wall
Increasing arterial stiffness
Genetic mutation (BMPR-II)
Forming blood clots in arteries
Possible causes: Thickening of arterial wall
Increasing arterial stiffness
Genetic mutation (BMPR-II)
Forming blood clots in arteries
PAH with BMPR2
Figure 1
Image retrieved from http://pats.atsjournals.org/content/vol3/issue8/images/medium/680fig1.gif
Out of many factors that cause primary pulmonary hypertension, genetic research shows a mutation in bone morphogenetic protein type (BMPR2) is associated with PPAH. After mutation in BMPR-II, its genetic expression is reduced, which increases transforming growth factor (TGF)-β signaling in its genetic pathway. This abnormal signaling induces for excess proliferation of smooth muscle cells, and eventually, increases arterial stiffness.
Figure 2
Image is retrieved from http://ghr.nlm.nih.gov/dynamicImages/chromomap/bmpr2.jpeg
BMPR-II is located on Chromosome 2 between q33 and q34.
Symptoms
Fatigue/ Tiredness
Short period of breeding
Fast heartbeat
Dizziness
Swollen ankles
Short period of breeding
Fast heartbeat
Dizziness
Swollen ankles
Related Videos
Goal
Goal of this project is to study the genetic relationship between mutation in BMPR-II and primary pulmonary arterial hypertension. Study of this lung disorder will be aided by reading various articles.
References
[1] NHLBI 2008, ‘Pulmonary Hypertension, What is’, in National Heart Lung and Blood Institute, accessed 28 January 2010, from <http://www.nhlbi.nih.gov/health/dci/Diseases/pah/pah_what.html>
[2] Morrell, N. (2006) Pulmonary Hypertension Due to BMPR2 Mutation, The Proceedings of the American Thoracic Society 3:680-686.doi: 10.1513/pats.200605-118SF
‘[3] Primary or Unexplained Pulmonary Hypertension’, American Heart Association, accessed 28 January 2010, from <http://www.americanheart.org/presenter.jhtml?identifier=4752>
[4] ‘How common is PAH?’, PAH Info, accessed 07 February 2010, from <http://www.pah-info.com/How_common_is_PAH>
[5] ‘BMPR2’, Genetic Home Reference, accessed 08 February 2010, from http://ghr.nlm.nih.gov/gene=bmpr2
[6] "Understanding Pulmonyar Arterial Hypertension" video. Retrieved February 5, 2010 from http://www.youtube.com/watch?v=VxtcwijYfNM
[7] "Pulmonary Hypertension" video. Retrieved February 7, 2010 from http://www.youtube.com/watch?v=U1jzkNdyt9Y
[2] Morrell, N. (2006) Pulmonary Hypertension Due to BMPR2 Mutation, The Proceedings of the American Thoracic Society 3:680-686.doi: 10.1513/pats.200605-118SF
‘[3] Primary or Unexplained Pulmonary Hypertension’, American Heart Association, accessed 28 January 2010, from <http://www.americanheart.org/presenter.jhtml?identifier=4752>
[4] ‘How common is PAH?’, PAH Info, accessed 07 February 2010, from <http://www.pah-info.com/How_common_is_PAH>
[5] ‘BMPR2’, Genetic Home Reference, accessed 08 February 2010, from http://ghr.nlm.nih.gov/gene=bmpr2
[6] "Understanding Pulmonyar Arterial Hypertension" video. Retrieved February 5, 2010 from http://www.youtube.com/watch?v=VxtcwijYfNM
[7] "Pulmonary Hypertension" video. Retrieved February 7, 2010 from http://www.youtube.com/watch?v=U1jzkNdyt9Y