Article
Genetics & Heredity
Isabelle Jeru, Amira Nabil, Gehad El-Makkawy, Olivier Lascols, Corinne Vigouroux, Ebtesam Abdalla
Summary: Pathogenic variants in the LMNA gene lead to a group of genetic disorders known as laminopathies, including mandibuloacral dysplasia type A (MADA). This study reports three Egyptian patients with MADA, one with typical phenotype and two with severe manifestations from early life. Combining observations with existing literature data provides a clearer understanding of phenotypic variability in this disease, suggesting the presence of a founder effect in Egypt and strengthening genotype-phenotype correlations.
Article
Genetics & Heredity
Ayberk Turkyilmaz, Bilgen Bilge Geckinli, Ceren Alavanda, Esra Arslan Ates, Ahmet Arman
Summary: LMNA gene variants cause a diverse range of laminopathies, mainly affecting the heart, skeleton, skin, bones, and nervous system. The affected tissues may vary depending on the site and type of variant, and complex phenotypes may also occur.
CLINICAL DYSMORPHOLOGY
(2021)
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)
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.
Review
Cell Biology
Marie Kervella, Maureen Jahier, Albano C. Meli, Antoine Muchir
Summary: Cardiomyopathy is a myocardial disorder characterized by abnormal heart muscle, which often leads to heart failure. Dilated cardiomyopathy, a common type, is significantly associated with compromised left ventricular function. Gene mutations, including those in the LMNA gene, have been identified as major causative factors. Mutated A-type lamins affect 3D genome organization and transcription activity of tissue-specific genes in Chromatin remodeling.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Genetics & Heredity
Jia Chen, Yuting Ma, Hong Li, Zhuo Lin, Zhe Yang, Qin Zhang, Feng Wang, Yanping Lin, Zebing Ye, Yubi Lin
Summary: Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a condition associated with ventricular arrhythmia, heart failure, and sudden death. Thromboembolism is also a serious complication of ARVC/D. This study identified a Chinese Han family with ARVC/D and characterized their genetic mutations. The LMNA and LAMA4 gene variants were found to be potentially pathogenic and associated with the manifestation of ARVC/D and related symptoms.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Article
Genetics & Heredity
Laura Keil, Filip Berisha, Dorit Knappe, Christian Kubisch, Moneef Shoukier, Paulus Kirchhof, Larissa Fabritz, Yorck Hellenbroich, Rixa Woitschach, Christina Magnussen
Summary: This report describes a family with heterozygous deletion of exons 3-6 of the LMNA gene, presenting with arrhythmias, conduction delays, heart failure, and sudden cardiac death. Two siblings in the family underwent heart transplantation and received implanted defibrillators.
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)
Article
Endocrinology & Metabolism
Carolina Cecchetti, M. Rosaria D'Apice, Elena Morini, Giuseppe Novelli, Carmine Pizzi, Uberto Pagotto, Alessandra Gambineri
Summary: This study identifies a female patient with FPLD2 caused by a heterozygous missense variant in the LMNA gene, leading to amino acid substitution in lamin A/C. The patient's cardiac evaluations revealed cardiac rhythm disturbances, promptly treated pharmacologically. This report supports the idea of atypical forms of FPLD2 with cardiomyopathy, emphasizing the importance of genotype-phenotype correlation for personalized patient monitoring.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Cell Biology
Sergi Cesar, Oscar Campuzano, Jose Cruzalegui, Victori Fiol, Isaac Moll, Estefania Martinez-Barrios, Irene Zschaeck, Daniel Natera-de Benito, Carlos Ortez, Laura Carrera, Jessica Exposito, Ruben Berrueco, Carles Bautista-Rodriguez, Ivana Dabaj, Marta Gomez Garcia-de-la-Banda, Susana Quijano-Roy, Josep Brugada, Andres Nascimento, Georgia Sarquella-Brugada
Summary: LMNA-related muscular dystrophy is a rare condition that can lead to various laminopathies such as Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy type 1B (LGMD1B), and LMNA-related congenital muscular dystrophy (L-CMD). It is associated with heart failure, malignant arrhythmias, and sudden death. This study aimed to comprehensively evaluate the cardiac status of pediatric patients with LMNA-related muscular dystrophy. The results showed that 20% of the patients had malignant arrhythmias, and early-onset EDMD was associated with worse cardiac prognosis.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Article
Endocrinology & Metabolism
My-Le Nguyen, Vandana Sachdev, Thomas R. Burklow, Wen Li, Megan Startzell, Sungyoung Auh, Rebecca J. Brown
Summary: The study found that recombinant leptin can improve cardiac structure and function in patients with lipodystrophy, especially those with generalized lipodystrophy. By reducing triglycerides and A1c levels, metreleptin effectively reduces cardiac hypertrophy and improves cardiac contractile function.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Cell Biology
Yohei Kono, Stephen A. Adam, Yuko Sato, Karen L. Reddy, Yixian Zheng, Ohad Medalia, Robert D. Goldman, Hiroshi Kimura, Takeshi Shimi
Summary: The major structural component of nuclear lamina, lamin C, rapidly accumulates at sites of NE rupture, promoting repair. This accumulation is dependent on the immunoglobulin-like fold domain that binds to BAF and a nuclear localization signal, and is partly responsible for the accumulation of nuclear BAF and cytoplasmic cGAS.
JOURNAL OF CELL BIOLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Kenji Onoue, Hiroko Wakimoto, Jiangming Jiang, Michael Parfenov, Steven DePalma, David Conner, Joshua Gorham, David McKean, Jonathan G. Seidman, Christine E. Seidman, Yoshihiko Saito
Summary: The mutation of LMNA gene contributes to the development of DCM by impairing cell proliferation capacity and cell cycle defects, which is distinct from the mechanisms of other causative genes of DCM.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2021)
Article
Cardiac & Cardiovascular Systems
Anna Castrini, Eystein Skjolsvik, Mette E. Estensen, Vibeke M. Almaas, Helge Skulstad, Erik Lyseggen, Thor Edvardsen, Oyvind H. Lie, Kermshlise C. Picard, Neal K. Lakdawala, Kristina H. Haugaa
Summary: In women with LMNA+ gene variants, the number of pregnancies does not appear to be associated with increased long-term risk of cardiac dysfunction, arrhythmias, or decreased event-free survival. Pregnancy is generally well-tolerated by women with LMNA+, with a low proportion experiencing arrhythmias during pregnancy.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2022)
Article
Endocrinology & Metabolism
Peter Wolf, Khaoula Bouazizi, Nadjia Kachenoura, Celine Piedvache, Antonio Gallo, Sylvie Salenave, Luigi Maione, Jacques Young, Mikael Prigent, Anne-Lise Lecoq, Emmanuelle Kuhn, Helene Agostini, Severine Trabado, Alban Redheuil, Philippe Chanson, Peter Kamenicky
Summary: In this study, cardiac magnetic resonance imaging was used to investigate the cardiac morphology and function of patients with active acromegaly. The study found that these patients had increased left ventricular mass and end-diastolic volume compared to controls. Treatment was able to reduce these measures without significantly affecting extracellular mass.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2023)
Article
Pharmacology & Pharmacy
Ibtissem Hannachi, Nadia Ben Fredj, Zohra Chadli, Najah Ben Fadhel, Haifa Ben Romdhane, Yvan Touitou, Naceur A. Boughattas, Amel Chaabane, Karim Aouam
TOXICOLOGY AND APPLIED PHARMACOLOGY
(2020)
Correction
Genetics & Heredity
Ibtissem Hannachi, Zohra Chadli, Emna Kerkeni, Abdessalem Kolsi, Mouna Hammouda, Amel Chaabane, Nadia Ben Fredj, Yvan Touitou, Naceur A. Boughattas, Karim Aouam
PHARMACOGENOMICS JOURNAL
(2021)
Article
Genetics & Heredity
Ibtissem Hannachi, Zohra Chadli, Emna Kerkeni, Abdessalem Kolsi, Mouna Hammouda, Amel Chaabane, Nadia Ben Fredj, Yvan Touitou, Naceur A. Boughattas, Karim Aouam
Summary: The study investigated the impact of different CYP3A genotypes on Tacrolimus bioavailability in kidney transplant patients. It found variations in different genotypic clusters during different posttransplant phases. CYP3A4 and CYP3A5 genotypes were identified to be associated with Tacrolimus metabolism.
PHARMACOGENOMICS JOURNAL
(2021)
Article
Obstetrics & Gynecology
Oumaima Ammar, Oumayma Tekeya, Ibtissem Hannachi, Amira Sallem, Zohra Haouas, Meriem Mehdi
Summary: The study found that patients with varicocele have higher levels of nuclear sperm injury, which is related to apoptosis and oxidative stress. Experimental results showed that sperm DNA fragmentation, viable spermatozoa with externalized PS, and MDA levels were significantly increased in varicocele patients, while antioxidant enzyme activities were significantly reduced.
REPRODUCTIVE SCIENCES
(2021)
Article
Genetics & Heredity
Mohammed Alshaikheid, Nadia Ben Fredj, Ibtissem Hannachi, Naourez Kolsi, Najah Ben Fadhel, Emna Kerkeni, Haifa Ben Romdhane, Amel Chaabane, Jamel Koubaa, Zohra Chadli, Karim Aouam
Summary: This study developed a population pharmacokinetic model and Bayesian estimators to predict INH AUC in Tunisian tuberculosis patients. The best model was a three-compartment model, and covariates had no impact on PK parameters. The best limited sampling strategy was selected based on prediction errors, which could be used for routine INH monitoring in this population.
PHARMACOGENOMICS JOURNAL
(2021)
Article
Genetics & Heredity
Helmi Ammar, Zohra Chadli, Ahmed Mhalla, Sabria Khouadja, Ibtissem Hannachi, Mohammed Alshaikheid, Ahlem Slama, Nadia Ben Fredj, Najeh Ben Fadhel, Haifa Ben Romdhane, Amel Chaabane, Naceur A. Boughattas, Lotfi Gaha, Lazhar Zarrouk, Karim Aouam
Summary: This study investigated the influence of genetic and nongenetic factors on Clozapine pharmacokinetics in a southern Mediterranean population, finding a significant correlation between the CYP1A2*1 F polymorphism and Clozapine exposure variation, explaining 24% of its variability. These findings suggest a critical role of the CYP1A2 -163C>A on Clozapine exposure in Tunisian schizophrenic patients, and that CYP1A2 genotyping combined with therapeutic drug monitoring may improve efficacy and safety of the drug. Further studies are needed to explore this issue.
PHARMACOGENOMICS JOURNAL
(2021)
Article
Respiratory System
Asma Migaou, Ahmed Ben Saad, Hassene Baili, Saoussen Cheikh Mhamed, Asma Achour, Wided Bouhlel, Nesrine Fahem, Mabrouk Abdelaaly, Naceur Rouatbi, Samah Joobeur
RESPIRATORY MEDICINE CASE REPORTS
(2020)
Article
Respiratory System
Lobna Loued, Asma Migaou, Asma Achour, Ahmed Ben Saad, Saoussen Cheikh Mhammed, Nesrine Fahem, Naceur Rouatbi, Sameh Joobeur
RESPIRATORY MEDICINE CASE REPORTS
(2020)
Article
Respiratory System
Yosra Braham, Asma Migaou, Manel Njima, Asma Achour, Ahmed Ben Saad, Saoussen Cheikh Mhamed, Nesrine Fahem, Naceur Rouatbi, Samah Joobeur
RESPIRATORY MEDICINE CASE REPORTS
(2020)
Article
Public, Environmental & Occupational Health
Asma Migaou, Nader Slama, Manel Njima, Asma Achour, Ahmed Ben Saad, Sarra Boukhris, Nesrine Fahem, Sabrine Dimassi, Adnene Laatiri, Saoussen Cheikh Mhammed, Naceur Rouatbi, Sameh Joobeur
PAN AFRICAN MEDICAL JOURNAL
(2020)
Article
Respiratory System
Ahmed Ben Saad, Saousen Cheikh Mhamed, Asma Migaou, Asma Achour, Naceur Rouatbi, Samah Joobeur
RESPIROLOGY CASE REPORTS
(2020)
Article
Pharmacology & Pharmacy
Nadia Ben-Fredj, Ibtissem Hannachi, Zohra Chadli, Haifa Ben-Romdhane, Naceur A. Boughattas, Najah Ben-Fadhel, Karim Aouam
TOXICOLOGY AND APPLIED PHARMACOLOGY
(2020)
Article
Public, Environmental & Occupational Health
Asma Achour, Oussema Dkhil, Jamel Saad, Mabrouk Abdelali, Ahmed Zrig, Badii Hmida, Mondher Golli, Mezri Maatouk, Walid Mnari
PAN AFRICAN MEDICAL JOURNAL
(2020)