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https://www.readbyqxmd.com/read/27913603/the-tumor-suppressor-flcn-mediates-an-alternate-mtor-pathway-to-regulate-browning-of-adipose-tissue
#1
Shogo Wada, Michael Neinast, Cholsoon Jang, Yasir H Ibrahim, Gina Lee, Apoorva Babu, Jian Li, Atsushi Hoshino, Glenn C Rowe, James Rhee, José A Martina, Rosa Puertollano, John Blenis, Michael Morley, Joseph A Baur, Patrick Seale, Zoltan Arany
Noncanonical mechanistic target of rapamycin (mTOR) pathways remain poorly understood. Mutations in the tumor suppressor folliculin (FLCN) cause Birt-Hogg-Dubé syndrome, a hamartomatous disease marked by mitochondria-rich kidney tumors. FLCN functionally interacts with mTOR and is expressed in most tissues, but its role in fat has not been explored. We show here that FLCN regulates adipose tissue browning via mTOR and the transcription factor TFE3. Adipose-specific deletion of FLCN relieves mTOR-dependent cytoplasmic retention of TFE3, leading to direct induction of the PGC-1 transcriptional coactivators, drivers of mitochondrial biogenesis and the browning program...
December 2, 2016: Genes & Development
https://www.readbyqxmd.com/read/27906882/familial-pneumothoraces-birt-hogg-dub%C3%A3-syndrome
#2
Elżbieta Radzikowska, Inga Barańska, Agnieszka Sobczyńska-Tomaszewska, Elżbieta Wiatr, Kazimierz Roszkowski-Śliż
No abstract text is available yet for this article.
November 10, 2016: Polskie Archiwum Medycyny Wewnętrznej
https://www.readbyqxmd.com/read/27905298/haploinsufficiency-of-the-folliculin-gene-leads-to-impaired-functions-of-lung-fibroblasts-in-patients-with-birt-hogg-dub%C3%A3-syndrome
#3
Yoshito Hoshika, Fumiyuki Takahashi, Shinsaku Togo, Muneaki Hashimoto, Takeshi Nara, Toshiyuki Kobayashi, Fariz Nurwidya, Hideyuki Kataoka, Masatoshi Kurihara, Etsuko Kobayashi, Hiroki Ebana, Mika Kikkawa, Katsutoshi Ando, Koichi Nishino, Okio Hino, Kazuhisa Takahashi, Kuniaki Seyama
Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant inherited disorder caused by germline mutations in the FLCN gene, and characterized by skin fibrofolliculomas, multiple lung cysts, spontaneous pneumothorax, and renal neoplasms. Pulmonary manifestations frequently develop earlier than other organ involvements, prompting a diagnosis of BHDS However, the mechanism of lung cyst formation and pathogenesis of pneumothorax have not yet been clarified. Fibroblasts were isolated from lung tissues obtained from patients with BHDS (n = 12) and lung cancer (n = 10) as controls...
November 2016: Physiological Reports
https://www.readbyqxmd.com/read/27899189/genetic-predisposition-to-kidney-cancer
#4
REVIEW
Laura S Schmidt, W Marston Linehan
Kidney cancer is not a single disease but is made up of a number of different types of cancer classified by histology that are disparate in presentation, clinical course, and genetic basis. Studies of families with inherited renal cell carcinoma (RCC) have provided the basis for our understanding of the causative genes and altered metabolic pathways in renal cancer with different histologies. Von Hippel-Lindau disease was the first renal cancer disorder with a defined genetic basis. Over the next two decades, the genes responsible for a number of other inherited renal cancer syndromes including hereditary papillary renal carcinoma, Birt-Hogg-Dube´syndrome, hereditary leiomyomatosis and renal cell carcinoma, and succinate dehydrogenase-associated renal cancer were identified...
October 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/27871249/benign-clear-cell-sugar-tumor-of-the-lung-in-a-patient-with-birt-hogg-dub%C3%A3-syndrome-a-case-report
#5
Yoko Gunji-Niitsu, Toshio Kumasaka, Shigehiro Kitamura, Yoshito Hoshika, Takuo Hayashi, Hitoshi Tokuda, Riichiro Morita, Etsuko Kobayashi, Keiko Mitani, Mika Kikkawa, Kazuhisa Takahashi, Kuniaki Seyama
BACKGROUND: Birt-Hogg-Dubé (BHD) syndrome is a rare inherited autosomal genodermatosis and caused by germline mutation of the folliculin (FLCN) gene, a tumor suppressor gene of which protein product is involved in mechanistic target of rapamycin (mTOR) signaling pathway regulating cell growth and metabolism. Clinical manifestations in BHD syndrome is characterized by fibrofolliculomas of the skin, pulmonary cysts with or without spontaneous pneumothorax, and renal neoplasms. There has been no pulmonary neoplasm reported in BHD syndrome, although the condition is due to deleterious sequence variants in a tumor suppressor gene...
November 21, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27867584/birt-hogg-dube-syndrome-accompanied-by-pulmonary-arteriovenous-malformation
#6
Noriyuki Matsutani, Hitoshi Dejima, Yusuke Takahashi, Hirofumi Uehara, Hisae Iinuma, Fumihiko Tanaka, Masafumi Kawamura
A 25-year-old male with Birt-Hogg-Dube (BHD) syndrome who developed hemothorax caused by ruptured of pulmonary arteriovenous malformation was reported. The patient was admitted to the hospital due to chest pain. A chest X-ray showed pleural fluid in his left lung, and a chest CT showed the presence of a tumor with enhanced contrast in the lower left lobe of approximately 5 cm in a diameter. Pleural fluid was collected by tap and indicated the presence of blood; therefore, hemothorax was suspected. Thoracoscopic surgery was performed to remove the mass for homostasis...
October 2016: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/27780965/a-case-of-birt-hogg-dub%C3%A3-bhd-syndrome-harboring-a-novel-folliculin-flcn-gene-mutation
#7
Takuro Yukawa, Takuya Fukazawa, Masakazu Yoshida, Ichiro Morita, Katsuya Kato, Yasumasa Monobe, Mitsuko Furuya, Yoshio Naomoto
BACKGROUND Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant disorder clinically characterized by pulmonary cysts, spontaneous pneumothorax, renal cell cancer, and skin fibrofolliculomas. The disorder is caused by germline mutations in the FLCN gene. CASE REPORT A 56-year-old female was admitted to our hospital with a diagnosis of bilateral spontaneous pneumothorax. A computed tomography (CT) scan of the chest revealed bilateral multiple bullae predominantly located in the subpleural and mediastinal areas in the bilateral upper and lower lobes...
October 26, 2016: American Journal of Case Reports
https://www.readbyqxmd.com/read/27737563/chest-computed-tomographic-image-screening-for-cystic-lung-diseases-in-patients-with-spontaneous-pneumothorax-is-cost-effective
#8
Nishant Gupta, Dale Langenderfer, Francis X McCormack, Daniel P Schauer, Mark H Eckman
RATIONALE: Patients without a known history of lung disease presenting with a spontaneous pneumothorax are generally diagnosed as primary spontaneous pneumothorax. However, occult diffuse cystic lung diseases such as Birt-Hogg-Dubé syndrome (BHD), lymphangioleiomyomatosis (LAM), and pulmonary Langerhans cell histiocytosis (PLCH) can also first present with a spontaneous pneumothorax, and their early identification by high-resolution computed tomographic (HRCT) imaging of chest has implications for subsequent management...
October 13, 2016: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/27734835/genetic-screening-of-the-flcn-gene-identify-six-novel-variants-and-a-danish-founder-mutation
#9
Maria Rossing, Anders Albrechtsen, Anne-Bine Skytte, Uffe B Jensen, Lilian B Ousager, Anne-Marie Gerdes, Finn C Nielsen, Thomas vO Hansen
Pathogenic germline mutations in the folliculin (FLCN) tumor suppressor gene predispose to Birt-Hogg-Dubé (BHD) syndrome, a rare disease characterized by the development of cutaneous hamartomas (fibrofolliculomas), multiple lung cysts, spontaneous pneumothoraces and renal cell cancer. In this study, we report the identification of 13 variants and three polymorphisms in the FLCN gene in 143 Danish patients or families with suspected BHD syndrome. Functional mini-gene splicing analysis revealed that two intronic variants (c...
October 13, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27722904/genetically-diagnosed-birt-hogg-dub%C3%A3-syndrome-and-familial-cerebral-cavernous-malformations-in-the-same-individual-a-case-report
#10
James Whitworth, Brian Stausbøl-Grøn, Anne-Bine Skytte
When faced with an unusual clinical feature in a patient with a Mendelian disorder, the clinician may entertain the possibilities of either the feature representing a novel manifestation of that disorder or the co-existence of a different inherited condition. Here we describe an individual with a submandibular oncocytoma, pulmonary bullae and renal cysts as well as multiple cerebral cavernous malformations and haemangiomas. Genetic investigations revealed constitutional mutations in FLCN, associated with Birt-Hogg-Dubé syndrome (BHD) and CCM2, associated with familial cerebral cavernous malformation...
October 8, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27652079/risk-of-spontaneous-pneumothorax-due-to-air-travel-and-diving-in-patients-with-birt-hogg-dub%C3%A3-syndrome
#11
P C Johannesma, I van de Beek, J W T van der Wel, M A Paul, A C Houweling, M A Jonker, J H T M van Waesberghe, R Reinhard, Th M Starink, R J A van Moorselaar, F H Menko, P E Postmus
BACKGROUND AND OBJECTIVES: Birt-Hogg-Dubé syndrome is an autosomal dominant disorder characterized by skin fibrofolliculomas, lung cysts, spontaneous pneumothorax and renal cell cancer due to germline folliculin (FLCN) mutations (Menko et al. in Lancet Oncol 10(12):1199-1206, 2009). The aim of this study was to evaluate the incidence of spontaneous pneumothorax in patients with BHD during or shortly after air travel and diving. METHODS: A questionnaire was sent to a cohort of 190 BHD patients and the medical files of these patients were evaluated...
2016: SpringerPlus
https://www.readbyqxmd.com/read/27643397/renal-angiomyolipoma-in-birt-hogg-dube-syndrome-a-case-study-supporting-overlap-with-tuberous-sclerosis-complex
#12
Eryn Dow, Ingrid Winship
Birt-Hogg-Dube syndrome (BHD) is an autosomal dominant disease characterised by benign cutaneous lesions, pulmonary cysts, and an increased risk of renal tumors. This rare condition is due to a mutation in the folliculin (FLCN) gene on chromosome 17q11.2, which has a role in the mechanistic/mammalian target of rapamycin (mTOR) signaling pathway of tumorigenesis. This case illustrates a patient with BHD and a renal angiomyolipoma, a neoplastic lesion not usually associated with BHD but common in Tuberous Sclerosis Complex (TSC)...
September 19, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27642565/recurrent-spontaneous-pneumothoraces-and-bullous-emphysema-a-novel-mutation-causing-birt-hogg-dube-syndrome
#13
Andrew Burkett, Niamh Coffey, Eva Tomiak, Nha Voduc
Birt-Hogg-Dube syndrome (BHDS) is a rare form of classically cystic lung disease that may present with spontaneous pneumothorax. The associated skin manifestations (fibrofolliculomas) are not always present. This article describes a case of spontaneous pneumothorax secondary to bullous emphysema in an otherwise healthy gentleman caused by a novel mutation in the folliculin (FLCN) gene.
2016: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/27633572/bilateral-renal-tumors-in-an-adult-man-with-smith-magenis-syndrome-the-role-of-the-flcn-gene
#14
Leila Dardour, Pieter Verleyen, Karl Lesage, Maureen Holvoet, Koen Devriendt
Smith-Magenis syndrome (SMS) is a contiguous-gene disorder most commonly caused by a deletion of chromosome 17p11.2. We report a 57 year-old man with SMS who presents bilateral renal tumors. This is most likely related to haploinsufficiency of FLCN gene, located in the deleted region, and a known tumor suppressor gene. Haploinsufficiency of FLCN causes Birt-Hogg-Dubé syndrome (BHDS), characterized by pulmonary cysts, renal and skin tumors. The present observation suggests that the follow-up of patients with SMS should also focus on possible manifestations of BHDS...
October 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27596542/multiple-angiomatous-nodules-a-novel-skin-tumor-in-birt-hogg-dub%C3%A3-syndrome
#15
C Nikolaidou, E Moscarella, C Longo, S Rosato, A Cavazza, S Piana
Birt-Hogg-Dubé syndrome (BHDS), first described in 1977, is a rare autosomal dominant disorder, linked to germline mutations in the FLCN (folliculin) gene. Patients may present with different skin tumors, pulmonary cysts with recurrent spontaneous pneumothorax, and renal cancers, but it has also been estimated that about 25% of carriers older than 20 years do not show skin involvement. So far, besides the triad of skin lesions of the original description (fibrofolliculomas, trichodischomas and acrochordons), a wide range of neoplastic and non-neoplastic skin conditions have been reported, i...
December 2016: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/27559131/c9orf72-binds-smcr8-localizes-to-lysosomes-and-regulates-mtorc1-signaling
#16
Joseph Amick, Agnes Roczniak-Ferguson, Shawn M Ferguson
Hexanucleotide expansion in an intron of the C9orf72 gene causes amyotrophic lateral sclerosis and frontotemporal dementia. However, beyond bioinformatics predictions that suggested structural similarity to folliculin, the Birt-Hogg-Dubé syndrome tumor suppressor, little is known about the normal functions of the C9orf72 protein. To address this problem, we used genome-editing strategies to investigate C9orf72 interactions, subcellular localization, and knockout (KO) phenotypes. We found that C9orf72 robustly interacts with SMCR8 (a protein of previously unknown function)...
October 15, 2016: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/27514594/birt-hogg-dub%C3%A3-syndrome
#17
REVIEW
Nishant Gupta, Bernie Y Sunwoo, Robert M Kotloff
Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disorder caused by mutations in the Folliculin gene and is characterized by the formation of fibrofolliculomas, early onset renal cancers, pulmonary cysts, and spontaneous pneumothoraces. The exact pathogenesis of tumor and lung cyst formation in BHD remains unclear. There is great phenotypic variability in the clinical features of BHD, and patients can present with any combination of skin, pulmonary, or renal findings. More than 80% of adult patients with BHD have pulmonary cysts on high-resolution computed tomography scan of the chest...
September 2016: Clinics in Chest Medicine
https://www.readbyqxmd.com/read/27486260/novel-folliculin-flcn-mutation-familial-spontaneous-pneumothorax
#18
Jian-Fang Zhu, Xiao-Qing Shen, Feng Zhu, Li Tian
BACKGROUND: Familial spontaneous pneumothorax is one of the characteristics of Birt-Hogg-Dubé syndrome (BHDS), which is an autosomal dominant disease caused by the mutation of folliculin (FLCN). AIM: To investigate the mutation of FLCN gene in a familial spontaneous pneumothorax. DESIGN: Prospective case study. METHODS: Clinical and genetic data of a Chinese family with four patients who presented spontaneous pneumothorax in the absence of skin lesions or renal tumors were collected...
August 2, 2016: QJM: Monthly Journal of the Association of Physicians
https://www.readbyqxmd.com/read/27484154/mutations-induce-conformational-changes-in-folliculin-c-terminal-domain-possible-cause-of-loss-of-guanine-exchange-factor-activity-and-birt-hogg-dub%C3%A3-syndrome
#19
S Verma, C Tyagi, S Goyal, B Pandey, S Jamal, A Singh, A Grover
No abstract text is available yet for this article.
August 2, 2016: Journal of Biomolecular Structure & Dynamics
https://www.readbyqxmd.com/read/27470329/birt-hogg-dub%C3%A3-syndrome-presenting-as-a-nevus-comedonicus-like-lesion-in-an-8-year-old-boy
#20
Jessica Sprague, Joseph W Landau
Birt-Hogg-Dubé syndrome is an uncommon genodermatosis characterized by hair follicle hamartomas and an increased risk of pneumothorax and renal cell carcinoma. Recognition of cutaneous manifestations is essential because it allows for early screening and management of systemic complications. We present the case of an 8-year-old boy with a recently described cystic and comedonal variant of the classic fibrofolliculoma, which had been present since birth.
September 2016: Pediatric Dermatology
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