Loss of Mitochondrial SDHB Expression: What is its Role in Diffuse Thyroid Lipomatosis?

Lau, Eva; Freitas, Paula; Costa, José Luís; Batısta, Rui; Máximo, Valdemar; Coelho, Ruimário Inácio; Matos-Lima, L.; Eloy, Catarina; Carvalho, Davide

doi:10.1055/s-0034-1398559

Cited by 15 publications

(17 citation statements)

References 10 publications

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“…Lau et al . (6) have recently published a possible relationship between the mutation of the mitochondrial protein succinate dehydrogenase-subunit B and the abnormal differentiation of adipose tissue in thyroid lipomatosis.…”

Section: Discussionmentioning

confidence: 99%

Thyroid lipomatosis in a 36-year-old patient with rheumatoid arthritis and a kidney transplant

Bell

Sosa

Jaén

et al. 2016

Endocrinology, Diabetes &Amp; Metabolism Case Reports

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SummaryThyroid lipomatosis is a rare disease, as a total of 20 cases have been described in the literature. It is characterized by diffuse infiltration of the stroma by mature adipose tissue and by progressive growth that produces different degrees of compressive symptoms. Our aim is to present the case of a 36-year-old woman who consulted because of dyspnea caused by a multinodular goiter. She underwent surgery with the presumptive diagnosis of a malignant neoplasia, but the pathological examination of the surgical specimen established the diagnosis of thyroid lipomatosis.Learning points Thyroid lipomatosis is a rare, benign disease characterized by diffuse infiltration of the stroma by mature adipose tissue.The pathophysiology of diffuse proliferation of adipose tissue in the thyroid gland is unclear.Thyroid lipomatosis is clinically manifested by a progressive enlargement of the thyroid that can involve the airway and/or upper gastrointestinal tract, producing dyspnea, dysphagia, and changes in the voice.Given the rapid growth of the lesion, the two main differential diagnoses are anaplastic carcinoma and thyroid lymphoma.Imaging studies may suggest a differential diagnosis, but a definitive diagnosis generally requires histopathological confirmation after a thyroidectomy.

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Section: Discussionmentioning

confidence: 99%

Thyroid lipomatosis in a 36-year-old patient with rheumatoid arthritis and a kidney transplant

Bell

Sosa

Jaén

et al. 2016

Endocrinology, Diabetes &Amp; Metabolism Case Reports

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“…Liposarcoma of the thyroid is a rare type of malignancy that is classified according to its histopathological criteria into well-differentiated, myxoid, round cell, pleomorphic, and dedifferentiated types. At presentation, the majority of liposarcomas are found to be extended beyond the capsule [ 15 ].…”

Section: Discussionmentioning

confidence: 99%

“…Schroder et al suggested that adipose tissue may be caused by meta-plasia of stromal fibroblasts due to tissue hypoxia or senile involution [ 17 ]. More recently, Lau et al suggested a possible relationship between diffuse lipomatosis and loss of expression of a protein called succinate dehydrogenase-subunit B in the follicular or adipose cells [ 15 ].…”

Section: Discussionmentioning

confidence: 99%

An Enlarged Goiter Presenting with a Rare Diffuse Lipomatosis of the Thyroid Gland

et al. 2018

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Patient: Female, 53Final Diagnosis: Thyroid lipomatosisSymptoms: DysphasiaMedication: —Clinical Procedure: Total thyroidectomySpecialty: OtolaryngologyObjective:Rare diseaseBackground:Diffuse lipomatosis of the thyroid gland is a particularly rare histopathological condition characterized by diffuse fatty infiltration within the thyroid stroma.Case Report:We report a case of a 53-year-old woman who presented with a 2-year history of massive neck goiter and mild dysphagia. A computed tomography (CT) scan revealed heterogeneous enhancing of an enlarged thyroid gland with left lobe cranial extension and compression of the pharynx, and caudal bilateral retrosternal growth. The patient underwent total thyroidectomy and histopathological examination revealed mature fatty tissue diffusely distributed throughout the thyroid gland. Excision of the gland was somewhat challenging due to the very thin thyroid capsule and recurrent protrusion of fat from the capsule.Conclusions:Diffuse thyroid lipomatosis is an extremely rare histopathological condition characterized by diffuse fatty infiltration in thyroid stroma. Despite its rarity, it should be considered in the differential diagnoses of a patient presenting with a goiter.

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“…SHDB and VEGFA are upregulated genes in the RR variety associated with the beta-oxidation of fatty acids and with angiogenesis, migration, and cellular growth [37], respectively. Different studies using knockout mice for the SHDB gene reported that the lack of its expression activates the energy metabolism, producing obesity resistance and the development of thyroid lipomatosis [38]. VEGFA gene has been widely studied due to its influence in many cellular processes, such as nutrient diffusion and angiogenesis.…”

Section: Gene Ontology and Pathways Enrichment Analysismentioning

confidence: 99%

Comparative Transcriptome Profile between Iberian Pig Varieties Provides New Insights into Their Distinct Fat Deposition and Fatty Acids Content

Villaplana-Velasco

Noguera²,

Pena

et al. 2021

Animals

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The high deposition of intramuscular fat and the content of oleic fatty acid are characteristic of the Iberian pig. These two parameters present great variability and are differentiated amongst the varieties that make up the Iberian pig population. Although previous studies generated evidence for causal genes and polymorphisms associated to the adipogenic potential of the Iberian pig, there is little information about how genetic expression influences this trait’s variability. The aim of this study was to analyses the expression profile between two varieties of Iberian pig (Torbiscal and Retinto) and their reciprocal crosses differentiated in their intramuscular fat (IMF) content and fatty acid (FA) composition in the Longissimus thoracis muscle using an RNA-seq approach. Our results corroborate that the Retinto variety is the fattiest amongst all studied varieties as its upregulated genes, such as FABP3 and FABP5, SLC27A1 and VEGFA among others, contribute to increasing adiposity. In its turn, Torbiscal pigs showed an upregulation of genes associated with the inhibition of fat deposition such as ADIPOQ and CPT1A. Further genetic variation analysis in these Iberian varieties showed relevant associations for SNP located within the differentially expressed genes with IMF and FA content. Thus, the differences found in the genetic architecture and the muscle transcriptome of these Iberian varieties might explain the variability in their fat content and composition and hence, their meat quality.

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Loss of Mitochondrial SDHB Expression: What is its Role in Diffuse Thyroid Lipomatosis?

Cited by 15 publications

References 10 publications

Thyroid lipomatosis in a 36-year-old patient with rheumatoid arthritis and a kidney transplant

Thyroid lipomatosis in a 36-year-old patient with rheumatoid arthritis and a kidney transplant

An Enlarged Goiter Presenting with a Rare Diffuse Lipomatosis of the Thyroid Gland

Comparative Transcriptome Profile between Iberian Pig Varieties Provides New Insights into Their Distinct Fat Deposition and Fatty Acids Content

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