Implications of Mutations of Activin Receptor-Like Kinase 1 Gene (ALK1) in Addition to Bone Morphogenetic Protein Receptor II Gene (BMPR2) in Children With Pulmonary Arterial Hypertension
スポンサーリンク
概要
- 論文の詳細を見る
Background Mutations of the bone morphogenetic protein receptor II gene (BMPR2), and 1 mutation of the activin receptor-like kinase 1 gene (ALK1) have been reported in patients with pulmonary arterial hypertension (PAH). Methods and Results A genomic study of ALK1 and BMPR2 was conducted in 21 PAH probands under 16 years of age to study the relationship between the clinical features of the patients and these genes. In all 4 familial aggregates of PAH, 3 ALK1 or 1 BMPR2 mutations were identified. Among 17 probands aged between 4 and 14 years with idiopathic PAH, 2 ALK1 mutations (2/17: 11.8%) and 3 BMPR2 mutations (3/17: 17.6%; 5 mutations in total: 5/17: 29.4%) were found. Conclusion Each proband with the ALK1 mutation developed PAH, as did the probands with the BMPR2 mutation. Hence, it is proposed that ALK1 plays as notable a role as BMPR2 in the etiology of PAH. Furthermore, asymptomatic carriers with the ALK1 mutation within the serine-threonine kinase domain are at risk of developing PAH and hereditary hemorrhagic telangiectasia, so close follow-up is recommended for those individuals.
- 社団法人日本循環器学会の論文
- 2007-12-20
著者
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Uehara Ritei
Department of Public Health, Jichi Medical University
-
Takao Atsuyoshi
Department Of Cardiology Tokyo Women's Medical University
-
Nakazawa Makoto
Minami Tohoku Hospital
-
Nakazawa Makoto
Division of Pediatric Cardiology, Heart Institute of Japan, Tokyo Women's Medical University
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Saji Tsutomu
Department of pediatrics Toho University school of medicine
-
Takao Atsuyoshi
Cardiology Tokyo Women's Medical University
-
Uehara Ritei
Department Of Pediatrics Jikei University School Of Medicine
-
Yagi Hisato
International Research And Educational Institute For Integrated Medical Sciences (ireiims) And Divis
-
Matsuoka Rumiko
Division Of Pediatric Cardiology And Ireiims
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Matsuoka Rumiko
The Gene Cardiovascular Disease Epidemiology Committee Of Japanese Pediatric Cardiology And Cardiac
-
Takagi Atsushi
Cardiology Tokyo Women's Medical University
-
Imamura Shin-ichiro
Ireiims Tokyo Women's Medical University
-
Fujiwara Maya
Division of Pediatric Cardiology
-
Akimoto Kaoru
Division of Pediatric Cardiology
-
Furutani Michiko
IREIIMS, Tokyo Women's Medical University
-
Nakayama Tomotaka
Department of Pediatrics, Toho University Medical Center Omori Hospital
-
Takao Atsuyoshi
Division of Pediatric Cardiology
-
Ftrutani Michiko
Ireiims Tokyo Women's Medical University
-
Imamura Shinichirou
Tokyo Women's Medical College The Heart Institute Of Japan Dept. Of Pediatric Cardiology
-
Saji Tsutomu
Department Of Pediatrics Hospital Of Toho University School Of Medicine
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Saji Tsutomu
Department Of Pediatrics Toho University Medical Center Omori Hospital
-
Nakazawa Makoto
Division Of Pediatric Cardiology
-
Takao Atsuyoshi
Tokyo Women's Medical College The Heart Institute Of Japan Dept. Of Pediatric Cardiology
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Takao Atuyoshi
Pediatric Cardiology Heart Institute Tokyo Women's Medical College
-
Takao Atsuyoshi
Department Of Cardiology The Heart Institute Of Japan Tokyo Women's Medical University
-
Furutani Michiko
Tokyo Women's Medical University
-
Akimoto Kaoru
The Gene Cardiovascular Disease Epidemiology Committee Of Japanese Pediatric Cardiology And Cardiac
-
Takao Atuyoshi
Dept. Of Pediatric Cardiology The Heart Institute Of Japan Tokyo Women's Medical College
-
Imamura Shinichiro
Tokyo Women's Medical University
-
Matsuoka Rumiko
Tokyo Women's Medical University
-
Takao Atsuyoshi
Tokyo Women's Medical College The Heart Institute Of Japan
-
Takao Atsuyoshi
Division Of Pediatrics And Surgery Heart Institute Tokyo Women's Medical College.
-
Akimoto Kaoru
The Gene Cardiovascular Disease Epidemiology Committee Of Japanese Pediatric Cardiology And Cardiac
-
Nakayama Tomotaka
Department Of Pediatrics Toho University Medical Center Omori Hospital
-
Akimoto Kaoru
The Gene Cardiovascular Disease Epidemiology Committee Of Japanese Pediatric Cardiology And Cardiac
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Saji Tsutomu
Department Of First Department Of Pediatrics Toho University Omori Medical Center
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