title: Loss of mitochondrial SDHB expression: what is its role in diffuse thyroid lipomatosis?
abstract: Diffuse lipomatosis of the thyroid gland is a very rare disease, characterized by extensive infiltration of thyroid parenchyma by mature adipose tissue, usually not accompanied by amyloid fibrils deposition. The pathophysiology of adipose tissue infiltration in the thyroid gland remains unknown. We report a clinical case of a diffuse thyroid lipomatosis, whose immunohistochemical study of succinate dehydrogenase - subunit B (SDHB) revealed loss of expression of this protein in the follicular or adipose cells. We detected the presence of a recently described SDHB gene large deletion. Loss of mitochondrial SDHB expression may have a key role in understanding the pathophysiology of thyrolipomatosis, by regulating status of lipid metabolism.
authors: Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar São João (CHSJ), Faculty of Medicine, University of Porto, Porto, Portugal.
authors: E
authors: E
authors: Lau
authors: Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar São João (CHSJ), Faculty of Medicine, University of Porto, Porto, Portugal.
authors: P
authors: P
authors: Freitas
authors: Department of Pathology, (CHSJ), Faculty of Medicine, University of Porto, Porto, Portugal.
authors: J
authors: J
authors: Costa
authors: Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Faculty of Medicine, University of Porto, Porto, Portugal.
authors: R
authors: R
authors: Batista
authors: Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Faculty of Medicine, University of Porto, Porto, Portugal.|Department of Pathology and Oncology, Faculty of Medicine, University of Porto, Porto, Portugal.
authors: V
authors: V
authors: Máximo
authors: Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Faculty of Medicine, University of Porto, Porto, Portugal.
authors: R
authors: R
authors: Coelho
authors: Department of General Surgery, CHSJ, Faculty of Medicine, University of Porto, Porto, Portugal.
authors: L
authors: L
authors: Matos-Lima
authors: Department of Pathology, (CHSJ), Faculty of Medicine, University of Porto, Porto, Portugal.|Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Faculty of Medicine, University of Porto, Porto, Portugal.
authors: C
authors: C
authors: Eloy
authors: Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar São João (CHSJ), Faculty of Medicine, University of Porto, Porto, Portugal.
authors: D
authors: D
authors: Carvalho
mesh_terms: D000273:Adipose Tissue / Q000201:enzymology; D017353:Gene Deletion; D006801:Humans; D007037:Hypothyroidism / Q000201:enzymology* / Q000235:genetics; D008068:Lipomatosis / Q000201:enzymology* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D008928:Mitochondria / Q000201:enzymology*; D013385:Succinate Dehydrogenase / Q000235:genetics* / Q000378:metabolism; D013961:Thyroid Gland / Q000201:enzymology
chemical_list: C108095:SDHB protein, human; D013385:Succinate Dehydrogenase