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Lipodystrophy lmna

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https://www.readbyqxmd.com/read/28751304/a-lipodystrophy-causing-lamin-a-mutant-alters-conformation-and-epigenetic-regulation-of-the-anti-adipogenic-mir335-locus
#1
Anja Oldenburg, Nolwenn Briand, Anita L Sørensen, Inswasti Cahyani, Akshay Shah, Jan Øivind Moskaug, Philippe Collas
Mutations in the Lamin A/C (LMNA) gene-encoding nuclear LMNA cause laminopathies, which include partial lipodystrophies associated with metabolic syndromes. The lipodystrophy-associated LMNA p.R482W mutation is known to impair adipogenic differentiation, but the mechanisms involved are unclear. We show in this study that the lamin A p.R482W hot spot mutation prevents adipogenic gene expression by epigenetically deregulating long-range enhancers of the anti-adipogenic MIR335 microRNA gene in human adipocyte progenitor cells...
July 27, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28686329/juvenile-onset-generalized-lipodystrophy-due-to-a-novel-heterozygous-missense-lmna-mutation-affecting-lamin-c
#2
Nivedita Patni, Chao Xing, Anil K Agarwal, Abhimanyu Garg
The LMNA gene contains 12 exons and encodes lamins A and C by alternative splicing within exon 10. While mutations in lamin A specific residues cause several diseases including lipodystrophy, progeria, muscular dystrophy, neuropathy, and cardiomyopathy, only three families with mutations in lamin C-specific residues are reported with cardiomyopathy, neuropathy, and muscular dystrophy so far. We now report two brothers with juvenile-onset generalized lipodystrophy due to a lamin C-specific mutation. The proband, a 23-year-old Caucasian male was reported to have generalized lipodystrophy at 3 weeks of age, developed diabetes, hypertriglyceridemia, hypertension and liver problems and died with complications of cirrhosis, and kidney failure...
July 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28663758/lmna-sequences-of-60-706-unrelated-individuals-reveal-132-novel-missense-variants-in-a-type-lamins-and-suggest-a-link-between-variant-p-g602s-and-type-2-diabetes
#3
Alyssa Florwick, Tejas Dharmaraj, Julie Jurgens, David Valle, Katherine L Wilson
Mutations in LMNA, encoding nuclear intermediate filament proteins lamins A and C, cause multiple diseases ('laminopathies') including muscular dystrophy, dilated cardiomyopathy, familial partial lipodystrophy (FPLD2), insulin resistance syndrome and progeria. To assess the prevalence of LMNA missense mutations ('variants') in a broad, ethnically diverse population, we compared missense alleles found among 60,706 unrelated individuals in the ExAC cohort to those identified in 1,404 individuals in the laminopathy database (UMD-LMNA)...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28641778/clinical-presentations-metabolic-abnormalities-and-end-organ-complications-in-patients-with-familial-partial-lipodystrophy
#4
Baris Akinci, Huseyin Onay, Tevfik Demir, Şenay Savas-Erdeve, Ramazan Gen, Ilgin Yildirim Simsir, Fatma Ela Keskin, Mehmet Sercan Erturk, Ayse Kubat Uzum, Guzin Fidan Yaylali, Nilufer Kutbay Ozdemir, Tahir Atik, Samim Ozen, Banu Sarer Yurekli, Tugce Apaydin, Canan Altay, Gulcin Akinci, Leyla Demir, Abdurrahman Comlekci, Mustafa Secil, Elif Arioglu Oral
OBJECTIVE: Familial partial lipodystrophy (FPLD) is a rare genetic disorder characterized by partial lack of subcutaneous fat. METHODS: This multicenter prospective observational study included data from 56 subjects with FPLD (18 independent Turkish families). Thirty healthy controls were enrolled for comparison. RESULTS: Pathogenic variants of the LMNA gene were determined in nine families. Of those, typical exon 8 codon 482 pathogenic variants were identified in four families...
July 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/28620495/familial-partial-lipodystrophy-and-proteinuric-renal-disease-due-to-a-missense-c-1045c%C3%A2-%C3%A2-t-lmna-mutation
#5
Athanasios Fountas, Zoe Giotaki, Evangelia Dounousi, George Liapis, Alexandra Bargiota, Agathocles Tsatsoulis, Stelios Tigas
Proteinuric renal disease is prevalent in congenital or acquired forms of generalized lipodystrophy. In contrast, an association between familial partial lipodystrophy (FPLD) and renal disease has been documented in very few cases. A 22-year-old female patient presented with impaired glucose tolerance, hyperinsulinemia, hirsutism and oligomenorrhea. On examination, there was partial loss of subcutaneous adipose tissue in the face, upper and lower limbs, bird-like facies with micrognathia and low set ears and mild acanthosis nigricans...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28545855/-a-complex-case-of-diabetes-due-to-lmna-mutation
#6
C Ambonville, M-A Bouldouyre, P Laforêt, P Richard, O Benveniste, C Vigouroux
INTRODUCTION: Laminopathies (diseases related to A/C mutations of lamines) are rare genetic diseases with an extensive phenotypic spectrum, including lipodystrophic syndromes-characterized by a selective loss of adipose tissue-of which the partial Dunnigan family type is the most frequent. CASE REPORT: We report on a 55-year-old woman with diabetes and long-term disabling myalgia. Her cushingoid morphotype, associated with cutaneous lipo-atrophy and muscle hypertrophy in addition to a genetic heritage, led us to the diagnosis of complex partial familial lipodystrophy heterozygous LMNA_c...
May 22, 2017: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/28443701/evaluation-of-dietary-intake-leisure-time-physical-activity-and-metabolic-profile-in-women-with-mutation-in-the-lmna-gene
#7
Luciana Monteiro, Maria Cristina Foss-Freitas, Anderson Navarro, Francisco Pereira, Fernanda Coeli, Estela Carneseca, Renan Montenegro Júnior, Milton Foss
INTRODUCTION: Familial partial lipodystrophy (FPL) is a rare genetic disorder characterized by selective lack of subcutaneous fat, which is associated with insulin-resistant diabetes. The Dunnigan variety (FPLD2) is caused by several missense mutations in the lamin A/C (LMNA) gene, most of which are typically located in exon 8 at the codon position 482. OBJECTIVE: The aim of this study was to assess and compare the dietary intake, leisure-time physical activity (LTPA), and biochemical measurements (glucose, A1C, and plasma lipids) in women with FPLD2 and without (control group, CG) and to examine the associations between dietary intake and biochemical measurements (BM)...
May 2017: Journal of the American College of Nutrition
https://www.readbyqxmd.com/read/28441765/distinct-fiber-type-signature-in-mouse-muscles-expressing-a-mutant-lamin-a-responsible-for-congenital-muscular-dystrophy-in-a-patient
#8
Alice Barateau, Nathalie Vadrot, Onnik Agbulut, Patrick Vicart, Sabrina Batonnet-Pichon, Brigitte Buendia
Specific mutations in LMNA, which encodes nuclear intermediate filament proteins lamins A/C, affect skeletal muscle tissues. Early-onset LMNA myopathies reveal different alterations of muscle fibers, including fiber type disproportion or prominent dystrophic and/or inflammatory changes. Recently, we identified the p.R388P LMNA mutation as responsible for congenital muscular dystrophy (L-CMD) and lipodystrophy. Here, we asked whether viral-mediated expression of mutant lamin A in murine skeletal muscles would be a pertinent model to reveal specific muscle alterations...
April 24, 2017: Cells
https://www.readbyqxmd.com/read/28408391/lmna-associated-partial-lipodystrophy-anticipation-of-metabolic-complications
#9
Isabelle Jeru, Camille Vatier, Marie-Christine Vantyghem, Olivier Lascols, Corinne Vigouroux
BACKGROUND: Type-2 familial partial lipodystrophy (FPLD2) is a rare autosomal dominant lipodystrophic disorder due to mutations in LMNA encoding lamin A/C, a key epigenetic regulator. FPLD2 severity is determined by the occurrence of metabolic complications, especially diabetes and hypertriglyceridaemia. We evaluated the disease history and severity over generations. METHODS: This retrospective study of the largest cohort of patients with FPLD2 reported to date investigates 85 patients from 24 families comprising three generations (G1: n=39; G2: n=41; G3: n=5)...
April 13, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28199729/spectrum-of-disease-associated-with-partial-lipodystrophy-lessons-from-a-trial-cohort
#10
Nevin Ajluni, Rasimcan Meral, Adam H Neidert, Graham F Brady, Eric Buras, Barbara McKenna, Frank DiPaola, Thomas L Chenevert, Jeffrey F Horowitz, Colleen Buggs-Saxton, Amit R Rupani, Peedikayil E Thomas, Marwan K Tayeh, Jeffrey W Innis, M Bishr Omary, Hari Conjeevaram, Elif A Oral
CONTEXT: Partial lipodystrophy (PL) is associated with metabolic co-morbidities but may go undiagnosed as the disease spectrum is not fully described. OBJECTIVE: The objective of the study was to define disease spectrum in PL using genetic, clinical (historical, morphometric) and laboratory characteristics. DESIGN: Cross-sectional evaluation. PARTICIPANTS: Twenty-three patients (22 with familial, one acquired, 78·3% female, aged 12-64 years) with PL and non-alcoholic fatty liver disease (NAFLD)...
May 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28125586/a-novel-lamin-a-mutant-responsible-for-congenital-muscular-dystrophy-causes-distinct-abnormalities-of-the-cell-nucleus
#11
Alice Barateau, Nathalie Vadrot, Patrick Vicart, Ana Ferreiro, Michèle Mayer, Delphine Héron, Corinne Vigouroux, Brigitte Buendia
A-type lamins, the intermediate filament proteins participating in nuclear structure and function, are encoded by LMNA. LMNA mutations can lead to laminopathies such as lipodystrophies, premature aging syndromes (progeria) and muscular dystrophies. Here, we identified a novel heterozygous LMNA p.R388P de novo mutation in a patient with a non-previously described severe phenotype comprising congenital muscular dystrophy (L-CMD) and lipodystrophy. In culture, the patient's skin fibroblasts entered prematurely into senescence, and some nuclei showed a lamina honeycomb pattern...
2017: PloS One
https://www.readbyqxmd.com/read/27919367/familial-partial-lipodystrophy-presenting-as-metabolic-syndrome
#12
Darwin Chan, Adam D McIntyre, Robert A Hegele, Andrew C Don-Wauchope
We report the first described case of a heterozygous p.R545H (c.1634 G > A) missense mutation in the LMNA gene with clinical features compatible with Dunnigan-type 2 familial partial lipodystrophy (FPLD2). The case presented as metabolic syndrome to a specialist clinical service and highlights the overlap between FPLD2 and the metabolic syndrome. The associations with type 2 diabetes mellitus, fatty liver disease, polycystic ovarian syndrome, and hypertriglyceridemia are highlighted. The importance of evaluating patients for these associated conditions is discussed, and the potential mechanisms of disease are briefly outlined...
November 2016: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/27778252/successful-treatment-of-an-unusual-case-of-fpld2-the-role-of-roux-en-y-gastric-bypass-case-report-and-literature-review
#13
Sharon Grundfest-Broniatowski, JingLiang Yan, Matthew Kroh, Holly Kilim, Andrew Stephenson
Familial partial lipodystrophy type 2 (FPLD2) is a rare disorder associated with LMNA gene mutations. It is usually marked by loss of subcutaneous fat on the limbs and trunk and severe insulin resistance. Scattered reports have indicated that Roux-en-Y bypass helps to control the diabetes mellitus in these patients. We present here a very unusual patient with FPLD2 who had life-threatening retroperitoneal and renal fat accumulation accompanied by bilateral renal cancers. Following cryotherapy of one renal cancer and a contralateral nephrectomy with debulking of the retroperitoneal fat, Roux-en-Y gastric bypass (RYGB) has successfully controlled the disease for 3 years...
April 2017: Journal of Gastrointestinal Surgery: Official Journal of the Society for Surgery of the Alimentary Tract
https://www.readbyqxmd.com/read/27585670/limb-girdle-muscular-dystrophy-with-severe-heart-failure-overlapping-with-lipodystrophy-in-a-patient-with-lmna-mutation-p-ser334del
#14
Agnieszka Madej-Pilarczyk, Adam Niezgoda, Magdalena Janus, Romuald Wojnicz, Michał Marchel, Anna Fidziańska, Stefan Grajek, Irena Hausmanowa-Petrusewicz
Laminopathies, a group of heterogeneous disorders associated with lamin A/C gene (LMNA) mutations, encompass a wide spectrum of clinical phenotypes, which may present as separate disease or as overlapping syndromes. We describe a 35-year-old female in whom a novel sporadic heterozygous mutation c.1001_1003delGCC (p.Ser334del) of the LMNA gene was found. The patient presented with overlapping syndrome of heart failure secondary to dilated cardiomyopathy, limb-girdle dystrophy and partial lipodystrophy. Endomyocardial biopsy revealed strong up-regulation of HLA classes I and II antigens on microvessels and induction of the class I antigens on cardiomyocytes...
February 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/27504462/an-uncommon-association-of-familial-partial-lipodystrophy-dilated-cardiomyopathy-and-conduction-system-disease
#15
Ragesh Panikkath, Deepa Panikkath, S Sanchez-Iglesias, D Araujo-Vilar, Joaquin Lado-Abeal
A 46-year-old African American woman presented with severe respiratory distress requiring intubation and was diagnosed with nonischemic cardiomyopathy. She had the typical phenotype of familial partial lipodystrophy 2 (FPLD2). Sequence analysis of LMNA gene showed a heterozygous missense mutation at exon 8 (c.1444C>T) causing amino acid change, p.R482W. She later developed severe coronary artery disease requiring multiple percutaneous coronary interventions and coronary artery bypass surgery. She was later diagnosed with diabetes, primary hyperparathyroidism, and euthyroid multinodular goiter...
July 2016: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/27374873/hutchinson-gilford-progeria-syndrome-a-premature-aging-disease-caused-by-lmna-gene-mutations
#16
REVIEW
Susana Gonzalo, Ray Kreienkamp, Peter Askjaer
Products of the LMNA gene, primarily lamin A and C, are key components of the nuclear lamina, a proteinaceous meshwork that underlies the inner nuclear membrane and is essential for proper nuclear architecture. Alterations in lamin A and C that disrupt the integrity of the nuclear lamina affect a whole repertoire of nuclear functions, causing cellular decline. In humans, hundreds of mutations in the LMNA gene have been identified and correlated with over a dozen degenerative disorders, referred to as laminopathies...
January 2017: Ageing Research Reviews
https://www.readbyqxmd.com/read/27265359/a-case-of-novel-lamin-a-c-mutation-manifesting-as-atypical-progeroid-syndrome-and-cardiomyopathy
#17
Xiaoxiao Guo, Chao Ling, Yongtai Liu, Xue Zhang, Shuyang Zhang
Mutations in the gene LMNA cause a wide spectrum of diseases that selectively affect different tissues and organ systems. The clinical features of these disorders can overlap but be generally categorized into 2 groups: cardiomyopathy and neuromuscular disorders; premature aging and lipodystrophy disorders. It is significant for a single patient who harbours the 2 sets of diseases simultaneously. We present a female patient with a unique phenotype including rare atypical progeroid syndrome and dilated cardiomyopathy...
September 2016: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/27100822/mandibuloacral-dysplasia-and-lmna-a529v-mutation-in-turkish-patients-with-severe-skeletal-changes-and-absent-breast-development
#18
Leyla Ozer, Evrim Unsal, Suleyman Aktuna, Volkan Baltaci, Pelin Celikkol, Fatma Akyigit, Askin Sen, Ozge Ayvaz, Sevim Balci
Mandibuloacral dysplasia (MAD) is an autosomal recessive disorder characterized by acroosteolysis (resorption of terminal phalanges), skin changes (hyperpigmentation), clavicular hypoplasia, craniofascial anomalies, a hook nose and prominent eyes, delayed closures of the cranial sutures, lipodystrophy, alopecia, and skeletal anomalies. MAD patients are classified according to lipodystrophy patterns: type A and type B. The vast majority of MAD cases are caused by LMNA gene mutations. MAD patients with type A lipodystrophy (MADA) have been reported to have LMNA R527H, A529V, or A529T mutations...
July 2016: Clinical Dysmorphology
https://www.readbyqxmd.com/read/26976018/fitting-the-pieces-of-the-puzzle-together-a-case-report-of-the-dunnigan-type-of-familial-partial-lipodystrophy-in-the-adolescent-girl
#19
Paulina Krawiec, Beata Mełges, Elżbieta Pac-Kożuchowska, Agnieszka Mroczkowska-Juchkiewicz, Kamila Czerska
BACKGROUND: Familial partial lipodystrophy of the Dunnigan type (FPLD 2) is a rare autosomal dominant disorder caused by the mutations of the lamin A/C gene leading to the defective adipogenesis, premature death of adipocytes and lipotoxicity. FPLD 2 is characterized by a progressive loss of subcutaneous adipose tissue in the limbs and trunk, and accumulation of body fat in the face and neck with accompanying severe metabolic derangements including insulin resistance, glucose intolerance, diabetes, dyslipidemia, steatohepatitis...
March 14, 2016: BMC Pediatrics
https://www.readbyqxmd.com/read/26922292/a-novel-overlapping-phenotype-characterized-by-lipodystrophy-mandibular-dysplasia-and-dilated-cardiomyopathy-associated-with-a-new-mutation-in-the-lmna-gene
#20
LETTER
Pierre Ambrosi, Bernard Kreitmann, Hubert Lepidi, Gilbert Habib, Nicolas Levy, Nicole Philip, Annachiara De Sandre-Giovannoli
No abstract text is available yet for this article.
April 15, 2016: International Journal of Cardiology
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