Previously, we have identified the polypeptide N-acetylgalactosaminyltransferase 3 (GALNT3) gene as notably hypomethylated in low-malignant potential (LMP) and high-grade (HG) serous epithelial ovarian tumors, compared to normal ovarian tissues. Here we show that GALNT3 is strongly overexpressed in HG serous EOC tumors as compared to normal ovarian tissue. Moreover, the GALNT3 expression significantly correlated with shorter progression-free survival (PFS) intervals in epithelial ovarian cancer (EOC) patients with advanced disease. Knockdown of the GALNT3 expression in EOC cells led to sharp decrease of cell proliferation and induced S-phase cell cycle arrest. Additionally, GALNT3 suppression significantly inhibited EOC cell migration and invasion. Gene expression profiling and consecutive network and pathway analyses confirmed these findings, as numerous genes and pathways known previously to be implicated in ovarian tumorigenesis, including EOC tumor invasion and metastasis, were found to be downregulated upon GALNT3 suppression, while some tumor suppressor genes were induced. Moreover, GALNT3 downregulation was associated with reduced MUC1 protein expression in EOC cells, probably related to destabilization of the MUC1 protein due to lack of GALNT3 glycosylation activity. GALNT3 knockdown was also accompanied with increase of the cell adhesion molecules β-catenin and E-cadherin, which are normally suppressed by MUC1 in cancer, thus supporting the role of the GALNT3-MUC1 axis in EOC invasion. Taken together, our data are indicative for a strong oncogenic potential of the GALNT3 gene in advanced EOC and identify this transferase as a novel EOC biomarker and putative EOC therapeutic target. Our findings also suggest that GALNT3 overexpression might contribute to EOC progression through aberrant mucin O-glycosylation.
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http://dx.doi.org/10.18632/oncotarget.1652 | DOI Listing |
J Orthop Case Rep
January 2025
Department of Orthopaedic Surgery, Maulana Azad Medical College, Bahadur Shah Marg, New Delhi, India.
Introduction: Tumoral calcinosis is a rare hereditary condition characterized by the deposition of calcium phosphate and hydroxyapatite in periarticular soft tissues. First described by Giard and Duret in 1898 and later detailed by Inclan in 1943, this condition has often been confused with other forms of periarticular calcification. Tumoral calcinosis predominantly affects young males and is typically found around major joints, such as the shoulder, elbow, hip, ankle, and wrist.
View Article and Find Full Text PDFSouth Med J
December 2024
Department of Dermatology, Mayo Clinic, Jacksonville, Florida.
Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare, autosomal recessive condition characterized by fibroblast growth factor 23 signaling pathway dysregulation, hyperphosphatemia and ectopic calcifications (which manifest as joint motion limitations), inflammatory bony pain, and disability. Given the rarity and multiorgan involvement of HFTC, a multidisciplinary approach including Dermatology, Ophthalmology, Dentistry, Nephrology, Endocrinology, Rheumatology, and Genetics is necessary for diagnosis and treatment. We present a multidisciplinary diagnostic and treatment approach for a patient with HFTC due to a gene mutation with unique imaging highlighting the extent of calcinosis seen in HFTC.
View Article and Find Full Text PDFCureus
October 2024
Pediatrics, Armed Forces Hospital Southern Region, Khamis Mushait, SAU.
Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare genetic disorder characterized by abnormal phosphate metabolism leading to hyperphosphatemia and calcific deposits in soft tissues. Chronic recurrent multifocal osteomyelitis (CRMO) can be challenging to diagnose and manage, especially in the context of underlying genetic conditions. This case report presents a case of a 12-year-old girl with a complex presentation involving osteomyelitis and a rare genetic disorder.
View Article and Find Full Text PDFJ Am Soc Nephrol
October 2024
Department of Nephrology, Hunan Key Laboratory of Kidney Disease and Blood Purification, Second Xiangya Hospital at Central South University, Changsha, China.
BMC Med Genomics
September 2024
National Health Commission Key Laboratory of Birth Defects for Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, 410008, China.
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