Pharmacogenomics and Personalized Medicine (Jul 2022)
A Study on the Molecular Mechanism of High Altitude Heart Disease in Children
Abstract
Qu-Zhen Tashi,1 Sang-Bu Tsering,1 Na-Ni Zhou,2 Yi Zhang,2 Yu-Juan Huang,3 Jia Jia,2 Ting-Jun Li3 1Department of Pediatrics, Shigatse Peopel’s Hospital, Shigatse, Tibet, 857000, People’s Republic of China; 2Fujungenetics Technologies Inc. Shanghai, Shanghai, 200333, People’s Republic of China; 3Department of Emergency, Children’s Hospital of Shanghai, Shanghai, 200062, People’s Republic of ChinaCorrespondence: Ting-Jun Li, Department of Emergency, Children’s Hospital of Shanghai, No. 355 of Huding Road, Putuo District, Shanghai, 200062, People’s Republic of China, Tel +86 18930590701, Email [email protected] Jia Jia, Fulgent Technologies Inc, No. 70 of Tongchuan Road, Putuo District, Shanghai, 200333, People’s Republic of China, Tel +86 18658176000, Email [email protected]: High altitude heart disease (HAHD) is a common pediatric disease in high altitude areas. It usually occurs in people who have lived for a long time or have lived for more than 2500m above sea level. Its common inducement is respiratory tract infection. The clinical differential diagnosis is difficult because the symptoms of HAHD are similar to those of congenital heart disease; Due to the limitation of medical conditions, many patients are in the state of losing follow-up or not seeking medical treatment, resulting in poor prognosis of HAHD and becoming a high-altitude disease with high mortality. Clarifying the molecular mechanism of HAHD, developing early molecular screening technology and accurate treatment methods of HAHD are the key to improve the ability of prevention and treatment of HAHD.Methods: First, the literature in the PubMed and CNKI databases were screened based on keywords and abstracts. Then, the literature for the study was identified based on the fitness between the content of the literature, the research objectives, and the timeliness of the literature. Finally, a systematic molecular mechanism of HAHD was established by investigating the literature and sorting out the genetic adaptations of Tibetan populations compared with low-altitude populations that migrated to the plateau.Results: With the investigation of the 48 papers screened, it was found that genes capable of enhancing the hypoxic ventilatory response and resistance to pulmonary hypertension were all correlated with the hypoxia-inducible factor (HIF) pathway, consisting mainly of three pathways, HIF-1α, HIF-2α, and NO.Conclusion: The low prevalence of HAHD in Tibetan aboriginal children was mainly due to the genetic adaptation of the Tibetan population to the high altitude environment, which coordinated the cellular response to hypoxia by regulating the downstream hypoxia control genes in the HIF pathway.Keywords: altitude sickness, pediatric, high altitude heart disease, HAHD, molecular mechanism
