Multiple Cutaneous Leiomyomas with Uterus Myomatosus (MCUL) – Two Case Reports and One New Mutation of FH Gene

Koch, Andrè; Schönlebe, Jacqueline; Vojvodić, Aleksandra; Lotti, Torello; Wollina, Uwe

doi:10.3889/oamjms.2019.625

Cited by 3 publications

(1 citation statement)

References 25 publications

(15 reference statements)

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“…FH deficiency results in neonatal and infantile encephalopathy (271)(272)(273). Germline mutations of FH are associated with Multiple Cutaneous Leiomyomas with Uterine Leiomyomas (MCUL) syndrome, also known as Reed syndrome, and share features with hereditary leiomyomatosis and renal cancer cell (HLRCC) (274)(275)(276). HLRCC is a hereditary condition that causes the development of multiple leiomyomas (fibroids) in the skin and uterus, and an increased risk of developing renal cell carcinoma (277).…”

Section: Tricarboxylic Acid Cyclementioning

confidence: 99%

Genetics of enzymatic dysfunctions in metabolic disorders and cancer

et al. 2023

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Inherited metabolic disorders arise from mutations in genes involved in the biogenesis, assembly, or activity of metabolic enzymes, leading to enzymatic deficiency and severe metabolic impairments. Metabolic enzymes are essential for the normal functioning of cells and are involved in the production of amino acids, fatty acids and nucleotides, which are essential for cell growth, division and survival. When the activity of metabolic enzymes is disrupted due to mutations or changes in expression levels, it can result in various metabolic disorders that have also been linked to cancer development. However, there remains much to learn regarding the relationship between the dysregulation of metabolic enzymes and metabolic adaptations in cancer cells. In this review, we explore how dysregulated metabolism due to the alteration or change of metabolic enzymes in cancer cells plays a crucial role in tumor development, progression, metastasis and drug resistance. In addition, these changes in metabolism provide cancer cells with a number of advantages, including increased proliferation, resistance to apoptosis and the ability to evade the immune system. The tumor microenvironment, genetic context, and different signaling pathways further influence this interplay between cancer and metabolism. This review aims to explore how the dysregulation of metabolic enzymes in specific pathways, including the urea cycle, glycogen storage, lysosome storage, fatty acid oxidation, and mitochondrial respiration, contributes to the development of metabolic disorders and cancer. Additionally, the review seeks to shed light on why these enzymes represent crucial potential therapeutic targets and biomarkers in various cancer types.

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Section: Tricarboxylic Acid Cyclementioning

confidence: 99%

Genetics of enzymatic dysfunctions in metabolic disorders and cancer

et al. 2023

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Ficus deltoidea ameliorates biochemical, hormonal, and histomorphometric changes in letrozole-induced polycystic ovarian syndrome rats

Haslan

Samsulrizal

Zin

et al. 2021

BMC Complement Med Ther

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Background Insulin resistance and hormonal imbalances are key features in the pathophysiology of polycystic ovarian syndrome (PCOS). We have previously shown that Ficus deltoidea var. deltoidea Jack (Moraceae) can improve insulin sensitivity and hormonal profile in PCOS female rats. However, biological characteristics underpinning the therapeutic effects of F. deltoidea for treating PCOS remain to be clarified. This study aims to investigate the biochemical, hormonal, and histomorphometric changes in letrozole (LTZ)-induced PCOS female rats following treatment with F. deltoidea. Methods PCOS was induced in rats except for normal control by administering LTZ at 1 mg/kg/day for 21 days. Methanolic extract of F. deltoidea leaf was then orally administered to the PCOS rats at the dose of 250, 500, or 1000 mg/kg/day, respectively for 15 consecutive days. Lipid profile was measured enzymatically in serum. The circulating concentrations of reproductive hormone and antioxidant enzymes were determined by ELISA assays. Ovarian and uterus histomorphometric changes were further observed by hematoxylin and eosin (H&E) staining. Results The results showed that treatment with F. deltoidea at the dose of 500 and 1000 mg/kg/day reduced insulin resistance, obesity indices, total cholesterol, triglycerides, low-density lipoprotein cholesterol (LDL), malondialdehyde (MDA), testosterone, luteinizing hormone (LH), and follicle-stimulating hormone (FSH) to near-normal levels in PCOS rats. The levels of high-density lipoprotein cholesterol (HDL), estrogen, and superoxide dismutase (SOD) are also similar to those observed in normal control rats. Histomorphometric measurements confirmed that F. deltoidea increased the corpus luteum number and the endometrial thickness. Conclusions F. deltoidea can reverse PCOS symptoms in female rats by improving insulin sensitivity, antioxidant activities, hormonal imbalance, and histological changes. These findings suggest the potential use of F. deltoidea as an adjuvant agent in the treatment program of PCOS.

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The Comparative Study of Serum Estrogen and Lipid Profile in Pre- and Post-menopausal Women as Atherosclerosis Risk Factors in Pakistan

Chaudhry,

Ikram,

Ayesha

et al. 2024

Cureus

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Background: Menopause signifies the eternal termination of menstruation in women as a consequence of ovarian action loss, typically occurring around the age of 51 years. Cardiovascular disease is the leading cause of death among post-menopausal women, which may be due to lower levels of estrogen and lipid profile. The present study was undertaken to evaluate serum estrogen and lipid profile status to assess the risk of atherosclerosis in both pre-and post-menopausal women.Objectives: The objective of this study is to explore the relationship between estrogen and lipid levels of women in pre-and post-menopausal stages.Methodology: A comparative cross-sectional study was conducted at Railway General Hospital Rawalpindi. A total of 100 participants were included of which 50 were pre-menopausal and 50 were post-menopausal women. Laboratory examination and questionnaires from the study population were used for data collection. Through the enzymatic method, serum cholesterol, triglycerides, low-density lipoprotein, and high-density lipoprotein (HDL) were assessed. Serum very low-density lipoprotein (VLDL) levels were calculated via Friedwald's components VLDL=TG/5.0. An enzyme-linked immunosorbent assay kit was used for estrogen measurement. For statistical analysis, Student's t-test and the Pearson correlation test were used.Results: Women after menopause have significantly high serum cholesterol, low-density lipoproteins, VLDLs, and triglycerides while HDL-c levels were significantly low (P<0.001). Levels of estrogen were low in post-menopausal females (P<0.001) as compared to menstruating women. Estrogen with HDL concentrations showed a positive correlation with an r value of 0.08556 while LDL levels showed a negative correlation with a r value of -0.26219.Conclusion: This comparative study explores the relationship between estrogen and lipid levels in pre-and post-menopausal women. Low estrogen with changed lipid variables was observed. Decreased cardiovascular protective HDL-c marks that menopause is a phase that acts as an independent risk factor for atherosclerosis.

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Multiple Cutaneous Leiomyomas with Uterus Myomatosus (MCUL) – Two Case Reports and One New Mutation of FH Gene

Cited by 3 publications

References 25 publications

Genetics of enzymatic dysfunctions in metabolic disorders and cancer

Genetics of enzymatic dysfunctions in metabolic disorders and cancer

Ficus deltoidea ameliorates biochemical, hormonal, and histomorphometric changes in letrozole-induced polycystic ovarian syndrome rats

The Comparative Study of Serum Estrogen and Lipid Profile in Pre- and Post-menopausal Women as Atherosclerosis Risk Factors in Pakistan

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