Review
Cell Biology
Antia Fernandez-Pombo, Everardo Josue Diaz-Lopez, Ana I. Castro, Sofia Sanchez-Iglesias, Silvia Cobelo-Gomez, Teresa Prado-Morana, David Araujo-Vilar
Summary: FPLD2 is a rare familial partial lipodystrophy caused by pathogenic variants in the LMNA gene. It is characterized by the loss of fat in the limbs and trunk and its accumulation in the face, neck, and abdominal viscera. It leads to metabolic complications such as diabetes, dyslipidemia, fatty liver disease, cardiovascular disease, and reproductive disorders.
Article
Medicine, General & Internal
David Araujo-Vilar, Sofia Sanchez-Iglesias, Ana I. Castro, Silvia Cobelo-Gomez, Alvaro Hermida-Ameijeiras, Gemma Rodriguez-Carnero, Felipe F. Casanueva, Antia Fernandez-Pombo
Summary: The study compared patients with Dunnigan disease carrying the R482 and N466 variants in exon 8 of the LMNA gene and found differences in body composition and metabolic levels between the two groups. Patients with the N466 variant showed higher triglyceride levels and a higher incidence of acute pancreatitis, indicating possible heterogeneity within exon 8 of the LMNA gene.
JOURNAL OF CLINICAL MEDICINE
(2021)
Review
Endocrinology & Metabolism
Ozge Besci, Maria Christina Foss de Freitas, Natalia Rossin Guidorizzi, Merve Celik Guler, Donatella Gilio, Jessica N. Maung, Rebecca L. Schill, Keegan S. Hoose, Bonje N. Obua, Anabela D. Gomes, Ilgin Yildirim Simsir, Korcan Demir, Baris Akinci, Ormond A. MacDougald, Elif A. Oral
Summary: This study reports the largest number of patients with LMNA-related lipodystrophy syndromes to date. The study helps quantify the prevalence of known and rare complications associated with different phenotypes and serves as a comprehensive catalog of all known cases.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Medicine, General & Internal
David Araujo-Vilar, Antia Fernandez-Pombo, Berta Victoria, Adrian Mosquera-Orgueira, Silvia Cobelo-Gomez, Ana Castro-Pais, Alvaro Hermida-Ameijeiras, Lourdes Loidi, Sofia Sanchez-Iglesias
Summary: Through a study of specific cases, it was found that the T528M variant in the LMNA gene may lead to FPLD2, compromising the adipogenic machinery.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Endocrinology & Metabolism
Shipeng Huang, Yan Zhang, Zuan Zhan, Shuhao Gong
Summary: Laminopathies are congenital diseases caused by mutations in genes such as LMNA, LMNB, and ZMPSTE24, resulting in accelerated degeneration of human tissues. This paper presents the first case of generalized lipodystrophy-associated progeroid syndrome (GLPS) in China and compares its clinical features with existing literature. The case may provide a diagnostic and therapeutic basis for potential patients.
JOURNAL OF DIABETES INVESTIGATION
(2023)
Article
Medicine, General & Internal
Silvia Magno, Giovanni Ceccarini, Andrea Barison, Iacopo Fabiani, Alessandro Giacomina, Donatella Gilio, Caterina Pelosini, Anna Rubegni, Michele Emdin, Gian Luca Gatti, Filippo Maria Santorelli, Maria Rita Sessa, Ferruccio Santini
Summary: LMNA p.R545H heterozygous variant exhibits incomplete penetrance and highly variable expressivity, with patients showing marked clinical heterogeneity in terms of phenotypic body fat distribution and severity of organ system involvement. Additional genetic factors, epigenetic mechanisms, or environmental triggers may explain the variable expressivity of phenotypes among various patients.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Endocrinology & Metabolism
Zhu Xuan Zhong, Julie Harris, Ellen Wilber, Samantha Gorman, David B. Savage, Stephen O'Rahilly, Anna Stears, Rachel M. Williams
Summary: A cohort of 12 children with FPLD2 were studied, with some patients developing comorbidities after the age of 10 despite dietetic input. The study showed that clinical review and multidisciplinary team input are beneficial for children with FPLD2, but formal screening for comorbidities before age 10 may not be necessary.
CLINICAL ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Guillaume Treiber, Alice Guilleux, Kevin Huynh, Oriane Bonfanti, Ania Flaus-Furmaniuk, David Couret, Natalie Mellet, Celine Bernard, Nathalie Le-Moullec, Berenice Doray, Isabelle Jeru, Jean-Christophe Maiza, Bhoopendrasing Domun, Muriel Cogne, Olivier Meilhac, Corinne Vigouroux, Peter J. Meikle, Estelle Nobecourt
Summary: The study investigated glucose tolerance, insulin response, and metabolic markers in FPLD2 patients, revealing a high prevalence of diabetes and prediabetes. Early diagnosis and treatment are necessary.
DIABETES & METABOLISM
(2023)
Article
Cell Biology
Elisa Schena, Elisabetta Mattioli, Chiara Peres, Laura Zanotti, Paolo Morselli, Patricia Iozzo, Maria Angela Guzzardi, Chiara Bernardini, Monica Forni, Salvatore Nesci, Massimiliano Caprio, Carolina Cecchetti, Uberto Pagotto, Elena Gabusi, Luca Cattini, Gina Lisignoli, William Blalock, Alessandra Gambineri, Giovanna Lattanzi
Summary: This study identifies changes in MR and its interaction with lamin A in FPLD2, and demonstrates that the MR antagonist spironolactone can improve adipocyte differentiation and brown adipose tissue activity in FPLD2 patients.
Article
Biochemistry & Molecular Biology
Cristina Algieri, Chiara Bernardini, Fabiana Trombetti, Elisa Schena, Augusta Zannoni, Monica Forni, Salvatore Nesci
Summary: LMNA mutation is associated with FPLD2, a disease characterized by abnormal body fat accumulation. The mutation impairs cell metabolism, particularly ATP production and glycolysis. However, the impact of the mutation on mitochondrial ATP production is greater than on ATP consumption.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Endocrinology & Metabolism
Vinaya Simha, Ian R. Lanza, Surendra Dasari, Katherine A. Klaus, Nathan Le Brasseur, Ivan Vuckovic, Marcello C. Laurenti, Claudio Cobelli, John D. Port, K. Sreekumaran Nair
Summary: Familial partial lipodystrophy (FPL) is characterized by muscle hypertrophy and insulin resistance. However, FPL patients do not show increased muscle strength despite their muscularity, and experience earlier fatigue during exercise. This is accompanied by impaired mitochondrial function and altered gene expression, which may explain the metabolic abnormalities and skeletal muscle dysfunction in FPL patients.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Cell Biology
Ramona Hartinger, Eva-Maria Lederer, Elisa Schena, Giovanna Lattanzi, Karima Djabali
Summary: Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disease that causes premature aging symptoms. Baricitinib and Bar + FTI treatments have been found to improve adipogenesis and lipid droplet formation in HGPS patients. The study also suggests that combined treatment with Bar and FTI may be more effective in ameliorating HGPS pathologies compared to lonafarnib treatment alone.
Article
Cardiac & Cardiovascular Systems
Leslie B. Gordon, Wendy Norris, Sarah Hamren, Robert Goodson, Jessica LeClair, Joseph Massaro, Asya Lyass, Ralph B. D'Agostino, Kelsey Tuminelli, Mark W. Kieran, Monica E. Kleinman
Summary: This study developed a plasma progerin assay to evaluate the quantity of progerin in HGPS patients and its response to treatment. The results showed that the plasma progerin levels were significantly elevated in HGPS patients and decreased after treatment, which was associated with patient survival.
Review
Endocrinology & Metabolism
David Araujo-Vilar, Antia Fernandez-Pombo, Silvia Cobelo-Gomez, Ana Castro, Sofia Sanchez-Iglesias
Summary: Lipodystrophy syndromes are rare conditions characterized by a lack of adipose tissue, leading to ectopic lipid deposition and various related disorders. These syndromes commonly affect growth, skin and appendages, adipose tissue, muscle, and bone, and can also reduce life expectancy. The molecular basis of these disorders is not well understood yet, but genomic instability, impairment of nuclear organization, chromatin structure, DNA repair, epigenetic dysregulation, and mitochondrial dysfunction are frequently observed.
HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM
(2022)
Article
Endocrinology & Metabolism
Suleyman Cem Adiyaman, Canan Altay, Berfu Y. Kamisli, Emre Ruhat Avci, Isil Basara, Ilgin Yildirim Simsir, Tahir Atik, Mustafa Secil, Elif A. Oral, Baris Akinci
Summary: Researchers have developed a new method using pelvic magnetic resonance imaging (MRI) to accurately diagnose familial partial lipodystrophy (FPLD). The study evaluated measurements from lipodystrophy patients and controls, and found that a combination of gluteal fat thickness and pubic/gluteal fat ratio can reliably diagnose FPLD.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Neurosciences
Javier Iglesias-Gonzalez, Sofia Sanchez-Iglesias, Andres Beiras-Iglesias, Estefania Mendez-Alvarez, Ramon Soto-Otero
MOLECULAR NEUROBIOLOGY
(2017)
Article
Cell Biology
Yiping Tu, Sofia Sanchez-Iglesias, David Araujo-Vilar, Loren G. Fong, Stephen G. Young
Article
Biochemistry & Molecular Biology
David Araujo-Vilar, Rosario Domingo-Jimenez, Alvaro Ruibal, Pablo Aguiar, Salvador Ibanez-Mico, Miguel Garrido-Pumar, Miguel Angel Martinez-Olmos, Concepcion Lopez-Soler, Cristina Guillin-Amarelle, Maria Gonzalez-Rodriguez, Antonio Rodriguez-Nunez, Julian Alvarez-Escudero, Mercedes Linares-Paz, Blanca Gonzalez-Mendez, Silvia Rodriguez-Garcia, Sofia Sanchez-Iglesias
EUROPEAN JOURNAL OF HUMAN GENETICS
(2018)
Review
Cell Biology
Cristina Guillin-Amarelle, Antia Fernandez-Pombo, Sofia Sanchez-Iglesias, David Araujo-Vilar
Article
Endocrinology & Metabolism
Cristina Guillin-Amarelle, Sofia Sanchez-Iglesias, Antonio Mera, Elena Pintos, Ana Castro-Pais, Leticia Rodriguez-Canete, Julio Pardo, Felipe F. Casanueva, David Araujo-Vilar
ARCHIVES OF ENDOCRINOLOGY METABOLISM
(2018)
Article
Multidisciplinary Sciences
Sofia Sanchez-Iglesias, Alexander Unruh-Pinheiro, Cristina Guillin-Amarelle, Blanca Gonzalez-Mendez, Alejandro Ruiz-Riquelme, Blanca Leticia Rodriguez-Canete, Silvia Rodriguez-Garcia, Encarnacion Guillen-Navarro, Rosario Domingo-Jimenez, David Araujo-Vilar
Article
Neurosciences
Sofia Sanchez-Iglesias, Alberto Fernandez-Liste, Cristina Guillin-Amarelle, Alberto Rabano, Leticia Rodriguez-Canete, Blanca Gonzalez-Mendez, Antia Fernandez-Pombo, Ana Senra, David Araujo-Vilar
Article
Medicine, General & Internal
David Araujo-Vilar, Antia Fernandez-Pombo, Berta Victoria, Adrian Mosquera-Orgueira, Silvia Cobelo-Gomez, Ana Castro-Pais, Alvaro Hermida-Ameijeiras, Lourdes Loidi, Sofia Sanchez-Iglesias
Summary: Through a study of specific cases, it was found that the T528M variant in the LMNA gene may lead to FPLD2, compromising the adipogenic machinery.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Medicine, General & Internal
David Araujo-Vilar, Sofia Sanchez-Iglesias, Ana I. Castro, Silvia Cobelo-Gomez, Alvaro Hermida-Ameijeiras, Gemma Rodriguez-Carnero, Felipe F. Casanueva, Antia Fernandez-Pombo
Summary: The study compared patients with Dunnigan disease carrying the R482 and N466 variants in exon 8 of the LMNA gene and found differences in body composition and metabolic levels between the two groups. Patients with the N466 variant showed higher triglyceride levels and a higher incidence of acute pancreatitis, indicating possible heterogeneity within exon 8 of the LMNA gene.
JOURNAL OF CLINICAL MEDICINE
(2021)
Review
Medicine, General & Internal
Sofia Sanchez-Iglesias, Antia Fernandez-Pombo, Silvia Cobelo-Gomez, Alvaro Hermida-Ameijeiras, Helena Alarcon-Martinez, Rosario Domingo-Jimenez, Alejandro Ivan Ruiz Riquelme, Jesus R. Requena, David Araujo-Vilar
Summary: Seipin, encoded by the BSCL2 gene, is a protein mainly expressed in the central nervous system of humans. Certain variants in BSCL2 can cause different diseases, including Celia's encephalopathy. This study analyzed the molecular basis, pathogenic mechanisms, clinical features, and a therapeutic approach for Celia's encephalopathy.
JOURNAL OF CLINICAL MEDICINE
(2021)
Review
Medicine, General & Internal
Antia Fernandez-Pombo, Sofia Sanchez-Iglesias, Silvia Cobelo-Gomez, Alvaro Hermida-Ameijeiras, David Araujo-Vilar
Summary: Lipodystrophies are a group of rare conditions characterized by the loss of adipose tissue, with the most common form being the familial partial lipodystrophy (FPLD) syndromes. Diagnosis involves considering family history, physical examination, and body composition evaluation, and treatment is primarily aimed at controlling metabolic abnormalities.
Review
Cell Biology
Antia Fernandez-Pombo, Everardo Josue Diaz-Lopez, Ana I. Castro, Sofia Sanchez-Iglesias, Silvia Cobelo-Gomez, Teresa Prado-Morana, David Araujo-Vilar
Summary: FPLD2 is a rare familial partial lipodystrophy caused by pathogenic variants in the LMNA gene. It is characterized by the loss of fat in the limbs and trunk and its accumulation in the face, neck, and abdominal viscera. It leads to metabolic complications such as diabetes, dyslipidemia, fatty liver disease, cardiovascular disease, and reproductive disorders.
Article
Medicine, General & Internal
Ragesh Panikkath, Deepa Panikkath, S. Sanchez-Iglesias, D. Araujo-Vilar, Joaquin Lado-Abeal
JOURNAL OF INVESTIGATIVE MEDICINE HIGH IMPACT CASE REPORTS
(2016)
Article
Endocrinology & Metabolism
Antia Fernandez-Pombo, Javier A. Ossandon-Otero, Cristina Guillin-Amarelle, Sofia Sanchez-Iglesias, Ana I. Castro, Blanca Gonzalez-Mendez, Silvia Rodriguez-Garcia, Leticia Rodriguez-Canete, Felipe F. Casanueva, David Araujo-Vilar
CLINICAL ENDOCRINOLOGY
(2018)