دورية أكاديمية
A dominant negative ADIPOQ mutation in a diabetic family with renal disease, hypoadiponectinemia, and hyperceramidemia
| العنوان: | A dominant negative ADIPOQ mutation in a diabetic family with renal disease, hypoadiponectinemia, and hyperceramidemia |
|---|---|
| المؤلفون: | Simeone, Christopher A., Wilkerson, Joseph L., Poss, Annelise M., Banks, James A., Varre, Joseph V., Guevara, Jose Lazaro, Hernandez, Edgar Javier, Gorsi, Bushra, Atkinson, Donald L., Turapov, Tursun, Frodsham, Scott G., Morales, Julio C. Fierro, O’Neil, Kristina, Moore, Barry, Yandell, Mark, Summers, Scott A., Krolewski, Andrzej S., Holland, William L., Pezzolesi, Marcus G. |
| المساهمون: | U.S. Department of Health & Human Services | NIH | National Institute of Diabetes and Digestive and Kidney Diseases |
| المصدر: | npj Genomic Medicine ; volume 7, issue 1 ; ISSN 2056-7944 |
| بيانات النشر: | Springer Science and Business Media LLC |
| سنة النشر: | 2022 |
| مصطلحات موضوعية: | Genetics (clinical), Genetics, Molecular Biology |
| الوصف: | Adiponectin, encoded by ADIPOQ , is an insulin-sensitizing, anti-inflammatory, and renoprotective adipokine that activates receptors with intrinsic ceramidase activity. We identified a family harboring a 10-nucleotide deletion mutation in ADIPOQ that cosegregates with diabetes and end-stage renal disease. This mutation introduces a frameshift in exon 3, resulting in a premature termination codon that disrupts translation of adiponectin’s globular domain. Subjects with the mutation had dramatically reduced circulating adiponectin and increased long-chain ceramides levels. Functional studies suggest that the mutated protein acts as a dominant negative through its interaction with non-mutated adiponectin, decreasing circulating adiponectin levels, and correlating with metabolic disease. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1038/s41525-022-00314-z |
| الإتاحة: | https://doi.org/10.1038/s41525-022-00314-zTest https://www.nature.com/articles/s41525-022-00314-z.pdfTest https://www.nature.com/articles/s41525-022-00314-zTest |
| حقوق: | https://creativecommons.org/licenses/by/4.0Test ; https://creativecommons.org/licenses/by/4.0Test |
| رقم الانضمام: | edsbas.37E08ACD |
| قاعدة البيانات: | BASE |
| DOI: | 10.1038/s41525-022-00314-z |
|---|