Mitochondrial defects and metabolic vulnerabilities in Lynch syndrome-associated MSH2-deficient endometrial cancer.

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Tác giả: Mikayla Borthwick Bowen, Russell R Broaddus, Joseph Celestino, Wai-Kin Chan, Kenneth Dunner, Nisha Gokul, Jae-Wook Jeong, Collene Jeter, Hyun-Eui Kim, Tae Hoon Kim, Philip L Lorenzi, Karen Lu, Brenda Melendez, Diana Moreno, Leah Peralta, Rosemarie Schmandt, Deena M Scoville, Lin Tan, Elizabeth Whitley, Richard K Yang, Melinda S Yates, M Anna Zal, Qian Zhang

Ngôn ngữ: eng

Ký hiệu phân loại: 232.964 Burial

Thông tin xuất bản: United States : JCI insight , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 198064

Lynch syndrome (LS), caused by inherited mutations in DNA mismatch repair genes including MSH2, carries a 60% lifetime risk of developing endometrial cancer (EC). Beyond hypermutability, mechanisms driving LS-associated EC remain unclear. We investigated MSH2 loss in EC pathogenesis using a mouse model (PR-Cre Msh2LoxP/LoxP, abbreviated Msh2KO), primary cell lines, human tissues, and human EC cells with isogenic MSH2 knockdown. By eight months, 58% of Msh2KO mice developed endometrial atypical hyperplasia (AH), a precancerous lesion. At 12-16 months, 47% of Msh2KO mice exhibited either AH or ECs with histologic similarities to human LS-ECs. Transcriptomic profiling of EC from Msh2KO mice revealed mitochondrial dysfunction-related pathway alterations. Subsequent studies in vitro and in vivo revealed mitochondrial dysfunction based upon two mechanisms: mitochondrial content reduction and structural disruptions in retained mitochondria. Human LS-ECs also exhibited mitochondrial content reduction compared to non-LS-ECs. Functional studies demonstrated metabolic reprogramming of MSH2-deficient EC cells, including reduced oxidative phosphorylation and increased susceptibility to glycolysis suppression. These findings identified mitochondrial dysfunction and metabolic disruption as consequences of MSH2 deficiency in EC. Mitochondrial and metabolic aberrations should be evaluated as biomarkers for endometrial carcinogenesis or risk stratification and represent potential targets for cancer interception in women with LS.
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