Oxygen-starved cancer cells develop similar survival strategies as the Sherpa population of the Himalayan region

"With this study, we aimed to achieve deeper insights into how tumors can survive, grow, and even metastasize under low oxygen conditions, known as hypoxia. Our findings reveal a broad convergence in genetic adaptation in tumors that continue to develop and grow under hypoxia, and in high-altitude populations who thrive in such a challenging environment," said Rodrigo Toledo, corresponding author of this present article. "With this study, we aimed to achieve deeper insights into how tumors...

BARCELONA, Spain, 09/04/2025 (informazione.news - comunicati stampa - salute e benessere)

said Rodrigo Toledo , corresponding author of this present article.

Sherpas have a unique variant of the gene, which is critical for hypoxia adaptation in high-altitude environments, such as the summit of Mount Everest.

Toledo's team analyzed the genomic profile of PPGL tumor samples from chronically hypoxic patients with CCHD and discovered that, among the 20,000 protein-coding genes of the human genome, the gene—found altered in Sherpas—was mutated with a frequency of up to 90% in these hypoxic cancer cells.

 added Rodrigo Toledo .

Convergent evolution is a process where unrelated species independently develop similar traits to overcome comparable environmental challenges. For example, both whales and bats developed echolocation to move around in pitch darkness. Despite their evolutionary distance, these species share the use of the same gene ( ) to develop echolocation.

observed Toledo.

said Carlota Arenillas , a PhD Student of Toledo's group and first author of the article.

These results could open new directions in using genetic adaptations of natural environments as a starting point to analyze datasets from cancer genomic studies and existing preclinical models toward identifying key genes for cancer survival and novel therapeutic targets.

concluded Toledo.

This research has been possible thanks to the support received from the Paradifference Foundation, the PHEiPAS Patient Association, the Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), and the European Network for the Study of Adrenal Tumors (ENSAT). Rodrigo Toledo also has the support of the "la Caixa" Foundation through a CaixaImpulse grant, a Miguel Servet research contract, a grant from the National Plan of the Institute of Health Carlos III (ISCIII) of the Spanish Ministry of Economy and Competitiveness, a CaixaImpulse scholarship from the "la Caixa" Foundation and a start-up grant from the FERO Foundation.

Reference

Carlota Arenillas , Lucía Celada, José Ruiz-Cantador, Bruna Calsina, Debayan Datta, Eduardo García-Galea, Roberta Fasani , Ana Belén Moreno-Cárdenas, Juan José Alba-Linares, Berta Miranda , Ángel M. Martínez-Montes, Cristina Álvarez-Escolá, Beatriz Lecumberri , Elvira Ana González García, Shahida K. Flores , Emmanuel Esquivel , Yanli Ding , Mirko Peitzsch , José-Ángel Robles-Guirado, Rita Maria Regojo Zapata , Jose Juan Pozo-Kreilinger, Carmela Iglesias , Trisha Dwight , Christopher A. Muir , Amelia Oleaga , Maria Elvira Garrido-Lestache Rodríguez-Monte, Maria Jesús Del Cerro , Isaac Martínez-Bendayán, Enol Álvarez-González, Tamara Cubiella, Delmar Muniz Lourenço Jr., Maria Adelaide A. Pereira , Nelly Burnichon, Alexandre Buffet, Craig Broberg , Paxton V. Dickson, Mario Fernandez Fraga , José Luis Llorente Pendás, Joaquín Rueda Soriano , Francisco Buendía Fuentes, Sergio P.A. Toledo , Roderick Clifton-Bligh , Rodrigo Dienstmann , Josep Villanueva , Jaume Capdevila , Anne-Paule Gimenez-Roqueplo, Judith Favier , Paolo Nuciforo , William Young Jr , Nicole Bechmann , Alexander R. Opotowsky , Anand Vaidya , Irina Bancos , Donate Weghorn, Mercedes Robledo , Anna Casteràs, Laura Dos-Subirà, Igor Adameyko, María- Dolores Chiara , Patricia L.M. Dahia , Rodrigo A. Toledo . Cancer Discovery, April 9 https://doi.org/10.1158/2159-8290.CD-24-0943

About VHIO

The Vall d'Hebron Institute of Oncology (VHIO), established in 2006 and located within the Vall d'Hebron Campus, is a reference comprehensive cancer center for personalized medicine in oncology. Through our purely translational and multidisciplinary research model, we aim to improve the prevention, early diagnosis and treatment of cancer by transforming the latest scientific discoveries made in the laboratory into early phase clinical trials for the development of more effective therapies to improve the quality of life and survival  of cancer patients.

VHIO forms part of the CERCA – Research Centres of Catalonia system and is accredited as a Severo Ochoa Center of Excellence.

Research at VHIO would not be possible without the support received from our patrons –Generalitat de Catalunya, Fundació Privada CELLEX, "La Caixa" Foundation, Fundación FERO, Fundación BBVA and the CRIS Cancer Foundation– and the public funding it receives as well as the generous support from institutional supporters, private institutions, companies, associations, societies, and individual donors. Only with such continued support will VHIO continue to advance personalized and targeted therapies against cancer.

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