High altitude medicine & biology最新文献

{"title":"A Comparative Biochemical Study Between L-Carnosine and β-Alanine in Amelioration of Hypobaric Hypoxia-Induced Skeletal Muscle Protein Loss.","authors":"Richa Rathor, Sukanya Srivastava, Geetha Suryakumar","doi":"10.1089/ham.2023.0014","DOIUrl":"10.1089/ham.2023.0014","url":null,"abstract":"<p><p>Rathor, Richa, Sukanya Srivastava, and Geetha Suryakumar. A comparative biochemical study between L-carnosine and β-alanine in amelioration of hypobaric hypoxia-induced skeletal muscle protein loss. <i>High Alt Med Biol</i>. 24:302-311, 2023. <b><i>Background:</i></b> Carnosine (CAR; β-alanyl-L-histidine), a biologically active dipeptide is known for its unique pH-buffering capacity, metal chelating activity, and antioxidant and antiglycation property. β-Alanine (ALA) is a nonessential amino acid and used to enhance performance and cognitive functions. Hypobaric hypoxia (HH)-induced muscle protein loss is regulated by multifaceted signaling pathways. The present study investigated the beneficial effects of CAR and ALA against HH-associated muscle loss. <b><i>Methodology:</i></b> Simulated HH exposure was performed in an animal decompression chamber. Gastric oral administration of CAR (50 mg·kg^-1) and ALA (450 mg·kg^-1) were given daily for 3 days and at the end of the treatment, hindlimb skeletal muscle tissue was excised for western blot and biochemical assays. <b><i>Results:</i></b> Cosupplementation of CAR and ALA alone was able to ameliorate the hypoxia-induced inflammation, oxidative stress (FOXO), ER stress (GRP-78), and atrophic signaling (MuRF-1) in the skeletal muscles. Creatinine phospho kinase activity and apoptosis were also decreased in CAR- and ALA-supplemented rats. However, CAR showed enhanced protection in HH-induced muscle loss as CAR supplementation was able to enhance protein concentration, body weight, and decreased the protein oxidation and ALA administration was not able to restore the same. <b><i>Conclusions:</i></b> Hence, the present comprehensive study supports the fact that CAR (50 mg·kg^-1) is more beneficial as compared with ALA (450 mg·kg^-1) in ameliorating the hypoxia-induced skeletal muscle loss.</p>","PeriodicalId":12975,"journal":{"name":"High altitude medicine & biology","volume":" ","pages":"302-311"},"PeriodicalIF":1.6,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10485858","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acute Mountain Sickness and High Altitude Cerebral Edema in Women: A Scoping Review-UIAA Medical Commission Recommendations.","authors":"Mia Derstine, Dominique Jean, Beth A Beidleman, Jacqueline Pichler Hefti, David Hillebrandt, Lenka Horakova, Susi Kriemler, Kastė Mateikaitė-Pipirienė, Peter Paal, Alison J Rosier, Marija Andjelkovic, Linda E Keyes","doi":"10.1089/ham.2023.0043","DOIUrl":"10.1089/ham.2023.0043","url":null,"abstract":"<p><p>Derstine, Mia, Dominique Jean, Beth A. Beidleman, Jacqueline Pichler Hefti, David Hillebrandt, Lenka Horakova, Susi Kriemler, Kasté Mateikaité-Pipiriené, Peter Paal, Alison Rosier, Marija Andjelkovic, and Linda E. Keyes. Acute mountain sickness and high altitude cerebral edema in women: A scoping review-UIAA Medical Commission recommendations. <i>High Alt Med Biol</i>. 24:259-267, 2023. <b><i>Background:</i></b> Acute mountain sickness (AMS) and high-altitude cerebral edema (HACE) are illnesses associated with rapid ascent to altitudes over 2,500 m in unacclimatized lowlanders. The aim of this scoping review is to summarize the current knowledge on sex differences in the epidemiology, pathophysiology, symptomatology, and treatment of AMS and HACE, especially in women. <b><i>Methods and Results:</i></b> The UIAA Medical Commission convened an international author team to review women's health issues at high altitude and to publish updated recommendations. Pertinent literature from PubMed and Cochrane was identified by keyword search combinations (including AMS, HACE, and high altitude), with additional publications found by hand search. The primary search focus was for articles assessing lowland women sojourning at high altitude. Results: The literature search yielded 7,165 articles, 37 of which were ultimately included. The majority of publications included did not find women at increased risk for AMS or HACE. There was extremely limited sex-specific data on risk factors or treatment. <b><i>Conclusions:</i></b> There is a limited amount of data on female-specific findings regarding AMS and HACE, with most publications addressing only prevalence or incidence with regard to sex. As such, general prevention and treatment strategies for AMS and HACE should be used regardless of sex.</p>","PeriodicalId":12975,"journal":{"name":"High altitude medicine & biology","volume":" ","pages":"259-267"},"PeriodicalIF":1.6,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49690197","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Retinal Manifestations in High Altitude.","authors":"Meenu Dangi, Arnab Sadhukhan, Poninder Kumar, S Bandopadhyay, Vijay K Sharma, V K Patra, Manu Chaudhary, Vipin Rana","doi":"10.1089/ham.2023.0051","DOIUrl":"10.1089/ham.2023.0051","url":null,"abstract":"<p><p>Dangi, Meenu, Arnab Sadhukhan, Poninder Kumar, S. Bandopadhayay, Vijay K. Sharma, V.K. Patra, Manu Chaudhary, and Vipin Rana. Retinal manifestations in high altitude. <i>High Alt Med Biol</i>. 24:296-301, 2023. <b><i>Aim:</i></b> To study the high altitude (HA)-related retinal manifestations among security personnel and thus to provide new insights into the characteristics and mechanisms of retinopathy. <b><i>Materials and Methods:</i></b> This was a multicentric, nonrandomized prospective observational and descriptive study. We studied 54 security personnel over 1 year, who were referred from HA areas of northern India and north-eastern India for ocular problems. Complete coagulation profile was performed among patients with vascular occlusion. <b><i>Results:</i></b> There were total of 54 patients with ages ranging from 22 to 55 years. HA retinopathy was noticed in 28 patients: central retinal vein occlusion (6 patients), branch retinal vein occlusion (4 patients), branch retinal artery occlusion (1 patient), central retinal artery occlusion (4 patients), ocular ischemic syndrome (1 patient), central serous chorioretinopathy (7 patients), acetazolamide-induced maculopathy (1 patient), and solar retinopathy (2 patients). Along with an increased hematocrit, serum homocysteine was raised in the majority of vascular occlusions. The mean age was 38.16 years, the mean altitude was 14,716 ft, and the mean duration of stay was 11.2 weeks. <b><i>Conclusion:</i></b> Hypobaric hypoxia due to HA is a potential risk for HA retinopathy and associated vascular occlusions. Aside from increased hematocrit, hyperhomocysteinemia is a potential cause of vascular occlusions.</p>","PeriodicalId":12975,"journal":{"name":"High altitude medicine & biology","volume":" ","pages":"296-301"},"PeriodicalIF":1.6,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9922487","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Appetite, Hypoxia, and Acute Mountain Sickness: A 10-Hour Normobaric Hypoxic Chamber Study.","authors":"Holly Barclay, Saptarshi Mukerji, Bengt Kayser, Jui-Lin Fan","doi":"10.1089/ham.2023.0009","DOIUrl":"10.1089/ham.2023.0009","url":null,"abstract":"<p><p>Barclay, Holly, Saptarshi Mukerji, Bengt Kayser, and Jui-Lin Fan. Appetite, hypoxia and acute mountain sickness: A 10-hour normobaric hypoxic chamber study. <i>High Alt Med Biol</i>. 24:329-335, 2023. <b><i>Background:</i></b> The effects of hypoxia and acute mountain sickness (AMS) on appetite and food preferences are moot, especially during the early phase of hypoxic exposure. We examined the effects of a 10-hour hypoxic exposure on appetite and food preference. <b><i>Methods:</i></b> We assessed appetite (hunger, satisfaction, fullness, perceived appetite, and lost appetite), food preferences (sweet, salty, savory, and fatty), and AMS (Lake Louise score) with questionnaires in 27 healthy individuals (13 women) across 10-hour exposures to normobaric normoxia (fraction of inspired O₂ [FiO₂]: 0.21) and normobaric hypoxia (F_iO₂: 0.12, equivalent of 5,000 m) in a randomized, single-blinded manner. <b><i>Results and Conclusions:</i></b> Compared with normoxia, hypoxia decreased hunger and appetite (<i>p</i> = 0.040 and <0.001, respectively), which was mediated by a decreased desire for sweet, salty, and fatty foods (<i>p</i> < 0.05 for all). AMS was associated with a decreased desire for sweet (<i>R</i> = -0.438, <i>p</i> = 0.032) and salty foods (<i>R</i> = -0.460, <i>p</i> = 0.024) and greater loss of appetite (<i>R</i> = -0.619, <i>p</i> = 0.018). Our findings suggest that acute hypoxia rapidly suppresses appetite and that AMS development further amplifies anorexia. Clinical Trial Registration Number: ACTRN12618000548235.</p>","PeriodicalId":12975,"journal":{"name":"High altitude medicine & biology","volume":" ","pages":"329-335"},"PeriodicalIF":1.6,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10351047","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Termination of Cardiopulmonary Resuscitation in Mountain Rescue: A Scoping Review and ICAR MedCom 2023 Recommendations.","authors":"Viktor Lugnet, Miles McDonough, Les Gordon, Mercedes Galindez, Nicolas Mena Reyes, Alison Sheets, Ken Zafren, Peter Paal","doi":"10.1089/ham.2023.0068","DOIUrl":"10.1089/ham.2023.0068","url":null,"abstract":"<p><p>Lugnet, Viktor, Miles McDonough, Les Gordon, Mercedes Galindez, Nicolas Mena Reyes, Alison Sheets, Ken Zafren, and Peter Paal. Termination of cardiopulmonary resuscitation in mountain rescue: a scoping review and ICAR MedCom 2023 recommendations. <i>High Alt Med Biol</i>. 24:274-286, 2023. <b><i>Background:</i></b> In 2012, the International Commission for Mountain Emergency Medicine (ICAR MedCom) published recommendations for termination of cardiopulmonary resuscitation (CPR) in mountain rescue. New developments have necessitated an update. This is the 2023 update for termination of CPR in mountain rescue. <b><i>Methods:</i></b> For this scoping review, we searched the PubMed and Cochrane libraries, updated the recommendations, and obtained consensus approval within the writing group and the ICAR MedCom. <b><i>Results:</i></b> We screened a total of 9,102 articles, of which 120 articles met the inclusion criteria. We developed 17 recommendations graded according to the strength of recommendation and level of evidence. <b><i>Conclusions:</i></b> Most of the recommendations from 2012 are still valid. We made minor changes regarding the safety of rescuers and responses to primary or traumatic cardiac arrest. The criteria for termination of CPR remain unchanged. The principal changes include updated recommendations for mechanical chest compression, point of care ultrasound (POCUS), extracorporeal life support (ECLS) for hypothermia, the effects of water temperature in drowning, and the use of burial times in avalanche rescue.</p>","PeriodicalId":12975,"journal":{"name":"High altitude medicine & biology","volume":" ","pages":"274-286"},"PeriodicalIF":1.6,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41113407","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"<i>Letter to the Editor:</i> Sensitivity and Specificity of the Lake Louise Score: What Should We Focus On?","authors":"Sanjeeb S Bhandari","doi":"10.1089/ham.2023.0079","DOIUrl":"10.1089/ham.2023.0079","url":null,"abstract":"","PeriodicalId":12975,"journal":{"name":"High altitude medicine & biology","volume":" ","pages":"337-338"},"PeriodicalIF":1.6,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10343693","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Impact of COVID-19 on the Response to Hypoxia.","authors":"Alexandre Louis, Charlotte Pröpper, Yann Savina, Corentin Tanne, Guy Duperrex, Paul Robach, Pascal Zellner, Stéphane Doutreleau, Jean-Michel Boulet, Alain Frey, Fabien Pillard, Cristina Pistea, Mathias Poussel, Thomas Thuet, Jean-Paul Richalet, François Lecoq-Jammes","doi":"10.1089/ham.2022.0156","DOIUrl":"10.1089/ham.2022.0156","url":null,"abstract":"<p><p>Louis, Alexandre, Charlotte Pröpper, Yann Savina, Corentin Tanne, Guy Duperrex, Paul Robach, Pascal Zellner, Stéphane Doutreleau, Jean-Michel Boulet, Alain Frey, Fabien Pillard, Cristina Pistea, Mathias Poussel, Thomas Thuet, Jean-Paul Richalet, and François Lecoq-Jammes. The impact of COVID-19 on the response to hypoxia. <i>High Alt Med Biol</i>. 24:321-328, 2023. <b><i>Background:</i></b> Severe high-altitude illness (SHAI) and coronavirus disease 2019 (COVID-19), while differing in most aspects of pathophysiology, both involve respiratory capacity. We examined the long-term impact of COVID-19 on response to hypoxia in individuals free of symptoms but having tested positive during the pandemic. The need for recommendations for such individuals planning a stay at high altitude are discussed. <b><i>Methods:</i></b> This multicenter study recruited participants from the multiSHAI cohort, all of whom had previously undergone a hypoxic exercise test. These participants were classified into two groups depending on whether they had since suffered mild-to-moderate COVID-19 (COVID+) or not (Control) and then asked to retake the test. Primary outcomes were: desaturation induced by hypoxia at exercise (ΔSpE), hypoxic cardiac response at exercise, hypoxic ventilatory response at exercise, and SHAI risk score. <b><i>Results:</i></b> A total of 68 participants retook the test, 36 classified in the COVID+ group. Analyses of primary outcomes showed no significant differences between groups. However, the COVID+ group showed significantly increased ventilation (VE) parameters during both hypoxic (<i>p</i> = 0.003) and normoxic exercise (<i>p</i> = 0.007). However, only the VE/oxygen consumption relationship during hypoxic exercise was significantly different. <b><i>Conclusion:</i></b> This study demonstrates no negative impact of COVID-19 on response to hypoxia as evaluated by the Richalet test. Clinical Trial Registration: NTC number: NCT05167357.</p>","PeriodicalId":12975,"journal":{"name":"High altitude medicine & biology","volume":" ","pages":"321-328"},"PeriodicalIF":1.6,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41234831","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Women's Health at High Altitude: An Introduction to a 7-Part Series by the International Climbing and Mountaineering Federation Medical Commission.","authors":"Lenka Horakova, Peter Paal, Jacqueline Pichler Hefti, Marija Andjelkovic, Beth A Beidleman, Mia Derstine, David Hillebrandt, Dominique Jean, Kastė Mateikaitė-Pipirienė, Alison J Rosier, Susi Kriemler, Linda E Keyes","doi":"10.1089/ham.2023.0041","DOIUrl":"10.1089/ham.2023.0041","url":null,"abstract":"<p><p>Horakova, Lenka, Peter Paal, Jacqueline Pichler Hefti, Marija Andjelkovic, Beth A. Beidleman, Mia Derstine, David Hillebrandt, Dominique Jean, Kastė Mateikaitė-Pipirienė, Alison J. Rosier, Susi Kriemler, and Linda E. Keyes. Women's health at high altitude: An introduction to a 7-part series by the International Climbing and Mountaineering Federation Medical Commission. <i>High Alt Med Biol</i>. 24:243-246, 2023. <b><i>Background:</i></b> Women have been traveling to high altitude since the inception of modern mountaineering. Although there are distinct female-specific features such as menstruation and menopause relevant to adaptation to and performance at high altitude, very little data exist on women's high-altitude health. To summarize what is known to date, the Medical Commission of the International Climbing and Mountaineering Federation (UIAA) has created a series of articles on women's health, high altitude illness, and performance at high altitude. <b><i>Methods:</i></b> Assembling an international author team, two types of manuscripts were developed: (1) reviews on female-specific topics such as pregnancy; (2) reviews on sex differences in high-altitude related illnesses, nutrition, cold injuries, and mortality. <b><i>Results:</i></b> The literature search yielded 7,165 articles, with 482 studies meeting the inclusion criteria for full-text review. The authors of individual chapters reviewed these articles and performed additional hand searches. <b><i>Conclusions:</i></b> Some important questions on women sojourning and exercising at high altitude have been studied, but many are still awaiting a qualified and evidence-based response. Our seven reviews, to be published in future issues of this journal, summarize what is known about lowland women sojourning at high altitude, provide recommendations, and highlight knowledge gaps in high altitude women's medicine.</p>","PeriodicalId":12975,"journal":{"name":"High altitude medicine & biology","volume":" ","pages":"243-246"},"PeriodicalIF":1.6,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49676949","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"High-Altitude Pulmonary Edema in Women: A Scoping Review-UIAA Medical Commission Recommendations.","authors":"Jacqueline Pichler Hefti, Dominique Jean, Alison J Rosier, Mia Derstine, David Hillebrandt, Lenka Horakova, Linda E Keyes, Kastė Mateikaitė-Pipirienė, Peter Paal, Marija Andjelkovic, Beth A Beidlemann, Susi Kriemler","doi":"10.1089/ham.2023.0054","DOIUrl":"10.1089/ham.2023.0054","url":null,"abstract":"<p><p>Pichler Hefti, Jacqueline, Dominique Jean, Alison Rosier, Mia Derstine, David Hillebrandt, Lenka Horakova, Linda E. Keyes, Kastė Mateikaitė-Pipirienė, Peter Paal, Marija Andjelkovic, Beth Beidlemann, and Susi Kriemler. High-altitude pulmonary edema in women: a scoping review-UIAA Medical Commission Recommendations. <i>High Alt Med Biol</i>. 24:268-273, 2023. <b><i>Background:</i></b> High-altitude pulmonary edema (HAPE) can occur >2,500-3,000 m asl and is a life-threatening medical condition. This scoping review aims to summarize the current data on sex differences in HAPE. <b><i>Methods:</i></b> The International Climbing and Mountaineering Federation (UIAA) Medical Commission convened an international author team to review women's health issues at high altitude. Pertinent literature from PubMed and Cochrane was identified by keyword search combinations (including HAPE), with additional publications found by hand search. The primary search focus was for original articles that included minimum one woman and at least a rudimentary subgroup analysis. <b><i>Results:</i></b> The literature search yielded 7,165 articles, 416 of which were relevant for HAPE, and 7 of which were ultimately included here. Six were case series, consistently reporting a lower HAPE prevalence in women. The one retrospective case-control study reported male HAPE prevalence at 10/100,000 and female at 0.74/100,000. No studies were identified that directly compared sex differences in the prevalence of HAPE. No published data was found for topics other than epidemiology. <b><i>Conclusions:</i></b> Few studies and associated methodological limitations allow few conclusions to be drawn. Incidence of HAPE may be lower in women than in men. We speculate that besides physiological aspects, behavioral differences may contribute to this potential sex difference.</p>","PeriodicalId":12975,"journal":{"name":"High altitude medicine & biology","volume":" ","pages":"268-273"},"PeriodicalIF":1.6,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71411995","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Contribution of Genetic Variants of the Peroxisome Proliferator-Activated Receptor-Alpha Gene to High-Altitude Hypoxia Adaptation in Sherpa Highlanders.","authors":"Fumiya Kinota,&nbsp;Yunden Droma,&nbsp;Nobumitsu Kobayashi,&nbsp;Toshimichi Horiuchi,&nbsp;Yoshiaki Kitaguchi,&nbsp;Masanori Yasuo,&nbsp;Masao Ota,&nbsp;Masayuki Hanaoka","doi":"10.1089/ham.2018.0052","DOIUrl":"10.1089/ham.2018.0052","url":null,"abstract":"<p><p>Kinota, Fumiya, Yunden Droma, Nobumitsu Kobayashi, Toshimichi Horiuchi, Yoshiaki Kitaguchi, Masanori Yasuo, Masao Ota, and Masayuki Hanaoka. The contribution of genetic variants of the gene encoding peroxisome proliferator-activated receptor-alpha gene (<i>PPARA</i>) to high-altitude hypoxia adaptation in Sherpa highlanders. <i>High Alt Med Biol</i>. 24:186-192, 2023.-Sherpa highlanders, who play invaluable roles in the exploration of Mount Everest, have exceptional tolerance to hypobaric hypoxia. Sherpa people are well known to possess the traits determined by genetic background for high-altitude adaptation. The metabolic adaptation mechanism is one of the biological ways for Sherpa highlanders in protecting them from hypoxia stress at high altitude. Studies have suggested that the gene encoding <i>PPARA</i> is associated with metabolic adaptation in the Himalayan population of Tibetans. This study attempts to investigate the genetic variants of the <i>PPARA</i> in Sherpa highlanders and the association with high-altitude hypoxia adaptation. Seven single-nucleotide polymorphisms (SNPs; rs135547, rs5769178, rs881740, rs4253712, rs5766741, and rs5767700 in introns and rs1800234 in exon 6) in the <i>PPARA</i> were genotyped in 105 Sherpa highlanders who lived in the Khumbu region (3440 m above sea level) and 111 non-Sherpa lowlanders who resided in Kathmandu (1300 m) in Nepal. By means of analyses of genetic distances, genotype distributions, allele frequencies, linkage disequilibrium, and haplotype constructions of the seven SNPs in the Sherpa highlanders versus the non-Sherpa lowlanders, it was revealed that the frequencies of minor alleles of rs4253712, rs5766741, rs5767700, and rs1800234 SNPs, as well as the frequency of haplotype constructed by the minor alleles of rs5766741-rs5767700-rs1800234, were significantly overrepresented in the Sherpa highlanders in comparison with the non-Sherpa lowlanders. The results strongly suggest that the genetic variants of the <i>PPARA</i> are likely to contribute to the high-altitude adaptation in Sherpa highlanders.</p>","PeriodicalId":12975,"journal":{"name":"High altitude medicine & biology","volume":"24 3","pages":"186-192"},"PeriodicalIF":2.1,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1089/ham.2018.0052","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10341656","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}