{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:21:07Z","timestamp":1784557267772,"version":"3.55.0"},"reference-count":40,"publisher":"Bioscientifica","issue":"9","license":[{"start":{"date-parts":[[2024,6,12]],"date-time":"2024-06-12T00:00:00Z","timestamp":1718150400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["erc.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,6,12]]},"abstract":"<jats:p>\n                    Pheochromocytoma (PCC) and abdominal paraganglioma (aPGL) (together abbreviated PPGL) frequently present with an underlying genetic event in a PPGL driver gene, and additional susceptibility genes are anticipated. Here, we re-analyzed whole-exome sequencing data for PCC patients and identified two patients with rare missense variants in the calcium voltage-gated channel subunit 1H gene (\n                    <jats:italic>CACNA1H<\/jats:italic>\n                    ).\n                    <jats:italic>CACNA1H<\/jats:italic>\n                    variants were also found in the clinical setting in PCC patients using targeted sequencing and from analysis of The Cancer Genome Atlas database. In total,\n                    <jats:italic>CACNA1H<\/jats:italic>\n                    variants were found in six PCC cases. Three of these were constitutional, and two are known to have functional consequences on hormone production and gene expression in primary aldosteronism and aldosterone-producing adrenocortical adenoma. In general, PPGL exhibited reduced\n                    <jats:italic>CACNA1H<\/jats:italic>\n                    mRNA expression as compared to normal adrenal. Immunohistochemistry showed strong CACNA1H (Ca\n                    <jats:sub>V<\/jats:sub>\n                    3.2) staining in adrenal medulla while PPGL typically had weak or negative staining. Reduced\n                    <jats:italic>CACNA1H<\/jats:italic>\n                    gene expression was especially pronounced in PCC compared to aPGL and in PPGL with cluster 2 kinase signaling phenotype. Furthermore,\n                    <jats:italic>CACNA1H<\/jats:italic>\n                    levels correlated with\n                    <jats:italic>HIF1A<\/jats:italic>\n                    and\n                    <jats:italic>HIF2A<\/jats:italic>\n                    . Moreover, TCGA data revealed a correlation between\n                    <jats:italic>CACNA1H<\/jats:italic>\n                    methylation density and gene expression. Expression of rCacna1h in PC12 cells induced differential protein expression profiles, determined by mass spectrometry, as well as a shift in the membrane potential where maximum calcium currents were observed, as determined by electrophysiology. The findings suggest the involvement of\n                    <jats:italic>CACNA1H\/<\/jats:italic>\n                    Ca\n                    <jats:sub>V<\/jats:sub>\n                    3.2 in pheochromocytoma development and establish a potential link between the etiology of adrenomedullary and adrenocortical tumor development.\n                  <\/jats:p>","DOI":"10.1530\/erc-23-0061","type":"journal-article","created":{"date-parts":[[2024,6,12]],"date-time":"2024-06-12T09:24:32Z","timestamp":1718184272000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-8","source":"Crossref","is-referenced-by-count":5,"title":["Genetic variants and down-regulation of CACNA1H in pheochromocytoma"],"prefix":"10.1530","volume":"31","author":[{"given":"Fredrika","family":"Svahn","sequence":"first","affiliation":[{"name":"Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karolina","family":"Solhusl\u00f8kk H\u00f6se","sequence":"additional","affiliation":[{"name":"Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3248-7629","authenticated-orcid":true,"given":"Adam","family":"Stenman","sequence":"additional","affiliation":[{"name":"Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden"},{"name":"Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden"},{"name":"Department of Breast, Endocrine Tumors and Sarcoma, Karolinska University Hospital, Stockholm, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaxuan","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden"},{"name":"Department of Breast Surgery, Obstetrics and Gynecology Hospital of Fudan University, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Calissendorff","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6079-164X","authenticated-orcid":true,"given":"Emma","family":"Tham","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden"},{"name":"Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c1kos","family":"V\u00e9gv\u00e1ri","sequence":"additional","affiliation":[{"name":"Division of Chemistry I, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roman A","family":"Zubarev","sequence":"additional","affiliation":[{"name":"Division of Chemistry I, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Na","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden"},{"name":"Department of Medicine Huddinge, Karolinska Institutet, Huddinge, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reju","family":"Korah","sequence":"additional","affiliation":[{"name":"Yale Endocrine Neoplasia Laboratory, Department of Surgery, Yale School of Medicine, New Haven, Connecticut, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias","family":"Carling","sequence":"additional","affiliation":[{"name":"Yale Endocrine Neoplasia Laboratory, Department of Surgery, Yale School of Medicine, New Haven, Connecticut, USA"},{"name":"Carling Adrenal Center, Tampa, Florida, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Zedenius","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden"},{"name":"Department of Breast, Endocrine Tumors and Sarcoma, Karolinska University Hospital, Stockholm, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Br\u00e4nstr\u00f6m","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden"},{"name":"Department of Breast, Endocrine Tumors and Sarcoma, Karolinska University Hospital, Stockholm, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5945-9081","authenticated-orcid":true,"given":"C Christofer","family":"Juhlin","sequence":"additional","affiliation":[{"name":"Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden"},{"name":"Department of Clinical Pathology and Cancer Diagnostics, Karolinska University Hospital Stockholm, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catharina","family":"Larsson","sequence":"additional","affiliation":[{"name":"Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"bib1","series-title":"Nature Methods","first-page":"248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","unstructured":"Adzhubei IASchmidt SPeshkin LRamensky VEGerasimova ABork PKondrashov AS & Sunyaev SR2010A method and server for predicting damaging missense mutations. 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