Protein kinase A drives paracrine crisis and WNT4-dependent testis tumor in Carney complex

Djari, Cyril; Sahut‐Barnola, Isabelle; Septier, Amandine; Plotton, Ingrid; Montanier, Nathanaëlle; Dufour, D.; Levasseur, Adrien; Wilmouth, James; Pointud, Jean-Christophe; Faucz, Fabio R.; Kamilaris, Crystal; Lopez, Antoine-Guy; Guillou, Florian; Swain, Amanda; Vainio, Seppo; Tauveron, Igor; Val, Pierre; Lefebvre, Henri; Stratakis, Constantine A.; Martinez, Antoine; Lefrançois‐Martinez, Anne‐Marie

doi:10.1172/jci146910

Cited by 4 publications

(2 citation statements)

References 98 publications

(111 reference statements)

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“…Under certain conditions, such as stress, profound changes occur in mitochondria, including mitochondrial energy expenditure, energy release, inflammation, and internal damage (Orrenius et al, 2015;Bock and Tait, 2020). Worldwide, the number of preventable male infertility cases is increasing, suggesting that the underlying pathophysiology of testicular dysfunction is unknown (Djari et al, 2021;Wu et al, 2021). Assisted reproductive technology has improved the treatment of male infertility, but the technology has raised concerns about potential risks such as genetic defects, structural defects, and potential mechanical and biological damage (Hindryckx et al, 2010; Glaser, 2015; Ribas-Maynou and Yeste, 2020).…”

Section: Discussionmentioning

confidence: 99%

In Vivo, Molecular Evaluation for Improvement of Sperms Mitochondrial Functions by Fenugreek, Extract and Nanoparticles

2022

pnr

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This study was carried out to investigate the possibility of using the fenugreek extract and fenugreek NPs to improve sperms mitochondrial functions in rats through estimation the level of testicular protein using the Real-Time polymerase chain reaction (RT-PCR). Totally, 60 Wister rats were selected, prepared and equally divided into three groups; negative control that remains without any treatment and given only distilled water daily; T1 that orally treated with a daily dose (100) mg/kg of extract fenugreek, and T2 that orally treated with a daily dose (100) mg/kg of fenugreek NPs. After an experimental period continued for 60 days, all study animals were euthanized with chloroform and collection of testis samples that subjected for RT-PCR examination through targeting SDHA, CS, and GAPDH genes. The findings revealed that the Ct of the calculated genes were increased in SDHA-fenugreek and CS-fenugreek when compared to GAPDH-fenugreek; as well as in values of SDHA-NPs and CS-NPs in comparison with GAPDH-NPs. Additionally, values of SDHA-control and CS-control were significantly higher than those observed in GAPDH-control. Regarding the fold change of genes, significant elevation (P 0.05) was reported in values of fenugreek NP in both SDHA and CS genes against the control as well as the fenugreek extract. In conclusion, Analysis of mitochondrial activity can give important additional information on the quality of a given spermatozoa sample, and highlights the importance of genetic analysis in confirming the expression of SDHA and CS genes. Additionally, the administration of both fenugreek extract and fenugreek NPs was revealed in a significant increasing in protein expression with a more significant effectiveness of fenugreek NPs rather than fenugreek extract. However, we recommended that the augmentation of fenugreek NPs and the proper regulation of steroidogenesis and mitochondrial biogenesis related genes is notably need to be furthermore studied. The toxicity of chitosan NPs needs to be evaluated, in particular in embryo development aspects, because extensive research into their biomedical applications was based largely on the biodegradable and biocompatible profile of chitosan.

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Section: Discussionmentioning

confidence: 99%

In Vivo, Molecular Evaluation for Improvement of Sperms Mitochondrial Functions by Fenugreek, Extract and Nanoparticles

2022

pnr

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“… malignancy rate up to 10% (follicular, papillar cancer) [ 51 , 52 ] Breast tumors breast myxomas, myxoid fibroadenomas and ductal adenomas [ 53 , 54 ]. after puberty [ 53 , 54 ] typically, multiple Ovarian lesions common [ 55 , 56 ] ovarian cysts, serous cystadenomas and cystic teratomas after puberty rarely progress to ovarian carcinoma [ 55 , 56 ] Testicular tumors up to 75% large cell-calcifying Sertoli cell tumors (LCCSCT) [ 57 , 58 ] childhood increased risk of reduced fertility [ 59 , 60 ] and malignancy in adults [ 61 , 62 ], malignancy rate 17% [ 63 ] physicians should be aware of these very rare testicular tumors representing <1% of all testicular neoplasms [ 57 , 58 ] and their possible connection to CNC Bone lesions 1% osteochondromyxoma [ 7 ], 31.6% vertebral nodular lesions [ 64 ] osteochondromyxoma: usually early childhood [ 7 ]; vertebral lesions interpreted as osteochondromyxomas 30-40 years [ 64 ] osteochondromyxomas have the potential to be locally invasive and to recur [ 65 ] typically associated with CNC [ 66 ] Other tumors pancreatic neoplasias [ 67 ] as well as hepatic [ 68 ], colonic [ 69 ] or gastric tumors [ 70 ] …”

Section: Case Seriesmentioning

confidence: 99%

Carney complex- why thorough medical history taking is so important - report of three cases and review of the literature

Harbeck

Flitsch

Kreitschmann-Andermahr

2022

Endocrine

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Purpose To present a new case series and to review the literature on Carney complex (CNC) with an emphasis on highlighting key clinical features of the disease and pointing out possibilities of shortening the diagnostic process. Method Searches of PubMed, identifying relevant reports up to April 2022. Results CNC is a rare, autosomally dominant inherited neoplasia -endocrinopathy syndrome with high clinical variability, even among members of the same family. Data on length of diagnostic process are scarce with numerous case series reporting a diagnostic delay of decades. Suggestions to shorten the diagnostic process includes awareness of the multi-faceted clinical presentations of CNC, thorough history taking of index patients and family members and awareness of diagnostic pitfalls. Importantly, unusual symptom combinations should alert the clinician to suspect a rare endocrinopathy syndrome such as CNC. Already present and coming on the horizon are databases and novel phenotyping technologies that will aid endocrinologists in their quest for timely diagnosis. Conclusion In this review, we examine the current state of knowledge in CNC and suggest avenues for shortening the diagnostic journey for the afflicted patients.

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Testis Cancer – Pathobiology of Different Tumor Types

Rajpert-De Meyts

2024

Reference Module in Biomedical Sciences

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Protein kinase A drives paracrine crisis and WNT4-dependent testis tumor in Carney complex

Cited by 4 publications

References 98 publications

In Vivo, Molecular Evaluation for Improvement of Sperms Mitochondrial Functions by Fenugreek, Extract and Nanoparticles

In Vivo, Molecular Evaluation for Improvement of Sperms Mitochondrial Functions by Fenugreek, Extract and Nanoparticles

Carney complex- why thorough medical history taking is so important - report of three cases and review of the literature

Testis Cancer – Pathobiology of Different Tumor Types

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