A5017309876- Nuclear Structure and Function
- RNA Research and Splicing
- Diabetes and associated disorders
- RNA regulation and disease
- Lipid metabolism and biosynthesis
- Mitochondrial Function and Pathology
- RNA and protein synthesis mechanisms
- PARP inhibition in cancer therapy
- Immunodeficiency and Autoimmune Disorders
- Parvovirus B19 Infection Studies
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Blood disorders and treatments
- Adipose Tissue and Metabolism
- Endoplasmic Reticulum Stress and Disease
- Metabolism and Genetic Disorders
- Diet and metabolism studies
- Diabetes Management and Research
- Erythrocyte Function and Pathophysiology
- Lipoproteins and Cardiovascular Health
- Regulation of Appetite and Obesity
- Dermatological and COVID-19 studies
- Thyroid Disorders and Treatments
- Research in Cotton Cultivation
- Hormonal and reproductive studies
- Sexual Differentiation and Disorders
Universidade de Santiago de Compostela
2016-2025
Center for Research in Molecular Medicine and Chronic Diseases
2016-2024
Complejo Hospitalario Universitario de Santiago
1998-2019
National Institutes of Health
2016
Complexo Hospitalario Universitario A Coruña
2010-2015
Instituto de Investigación Sanitaria de Santiago
2014-2015
Biomedical Research Institute
2013
Medicina
2006
Background: Lipodystrophy (LD; non-human immunodeficiency virus [HIV]-associated) syndromes are a rare body of disorders for which true prevalence is unknown. Prevalence estimates diseases important to increase awareness and financial resources. Current qualitative quantitative LD range from ~0.1 90 cases/million. We demonstrate an approach quantitatively estimate (all, generalized, partial) through search 5 electronic medical record (EMR) databases 4 literature searches. Methods: EMR...
Steroid 11beta-hydroxylase (CYP11B1) deficiency (11OHD) is the second most common form of congenital adrenal hyperplasia (CAH). Cases nonclassic 11OHD are rare compared with incidence 21-hydroxylase deficiency.The aim study was to analyze functional consequences seven novel CYP11B1 mutations (p.M88I, p.W116G, p.P159L, p.A165D, p.K254_A259del, p.R366C, p.T401A) found in three patients classic 11OHD, two and heterozygous carriers for mutations.We conducted studies employing a COS7 cell vitro...
<h3>Background</h3> Seipin/BSCL2 mutations can cause type 2 congenital generalised lipodystrophy (BSCL) or dominant motor neurone diseases. Type BSCL is frequently associated with some degree of intellectual impairment, but not to fatal neurodegeneration. In order unveil the aetiology and pathogenetic mechanisms a new neurodegenerative syndrome novel BSCL2 mutation, six children, four them showing features, were studied. <h3>Methods</h3> Mutational splicing analyses performed. The brain two...
Abstract Context Lipodystrophy syndromes are rare disorders characterized by deficient adipose tissue, leading to insulin resistance, dyslipidemia, and organ system abnormalities. Objective Our goal was develop a lipodystrophy severity score (LDS) holistically capture the diverse manifestations of into numerical aid in prediction clinical outcomes and/or treatment impact. Design An 8-domain LDS developed eight disease experts consultation with patient organizations. The rated for feasibility...
<h3>Background:</h3> Type 2 familial partial lipodystrophy (FPLD2) is characterised by loss of fat in the limbs and buttocks results from mutations <i>LMNA</i> gene. <h3>Aim:</h3> To evaluate role several genes involved adipogenesis order to better understand underlying mechanisms regional subcutaneous adipose tissue (scAT) patients with FPLD2. <h3>Methods:</h3> In total, 7 FPLD2 10 healthy control participants were studied. A minimal model was used calculate insulin sensitivity (IS). scAT...
Lipodystrophies are a group of diseases mainly characterized by loss adipose tissue and frequently associated with insulin resistance, hypertriglyceridemia, hepatic steatosis. In uncommon lipodystrophies, these complications difficult to control conventional therapeutic approaches. This retrospective study addressed the effectiveness recombinant methionyl leptin (metreleptin) for improving glucose metabolism, lipid profile, steatosis in patients genetic lipodystrophic syndromes. We studied...
Type-2 Familial Partial Lipodystrophy is caused by LMNA mutations. Patients gradually lose subcutaneous fat from the limbs, while they accumulate adipose tissue in face and neck. Several studies have demonstrated that autophagy involved regulation of adipocyte differentiation maintenance balance between white brown tissue. We identified deregulation laminopathic preadipocytes before induction differentiation. Moreover, differentiating precursors, we observed impairment large lipid droplet...
Acquired generalized lipodystrophy (AGL) is a rare condition characterized by an altered distribution of adipose tissue and predisposition to develop hepatic steatosis fibrosis, diabetes, hypertriglyceridemia. Diagnosis AGL difficult based on the observation fat loss, autoimmunity, lack family history. The pathogenic mechanism destruction remains unknown, but evidence suggests autoimmune origin. Anti-adipocyte antibodies have been reported in patients with AGL; however, their involvement...
Abstract Background Lipodystrophy syndromes comprise a group of extremely rare and heterogeneous diseases characterized by selective loss adipose tissue in the absence nutritional deprivation or catabolic state. Because rarity each lipodystrophy subform, research this area is difficult international co-operation mandatory. Therefore, 2016, European Consortium Lipodystrophies (ECLip) decided to create registry for patients with lipodystrophy. Results The was build using information technology...
To detect common as well rare and novel CYP21A mutations in 21-hydroxylase deficiency patients. estimate the distribution of compare them with other European studies. construct haplotypes linked to a recurrent mutation.Genetic analysis by sequencing entire CYP21A2 gene plus Southern blot.A total 138 unrelated Spanish patients: 122 nonclassical forms (NCF) 16 classical (CF) were studied.Among 266 nonrelated mutated alleles; deletions/conversions spectrum 27 different alleles found: 15 single...
Summary Background Lipodystrophies are a heterogeneous group of diseases characterized by abnormal fat distribution. Familial partial lipodystrophy 2 (FPLD2) is due to mutations in the LMNA gene. Previous studies have suggested that 5′ nuclear localization signal (NLS) more likely underlie laminopathies with cardiac or skeletal muscle involvement, while 3′ NLS and progeroid syndromes. Objective To study clinical molecular features subject FPLD. Subjects methods We carried out mutational...
Acquired generalized lipodystrophy (AGL) is a rare condition characterized by massive loss of adipose tissue through the body, causing severe metabolic complications. Autoimmune destruction adipocytes strongly suspected based on frequent association AGL with autoimmune disorders. In 2018, autoantibodies against perilipin 1 (PLIN1) were identified in three patients autoimmune-associated AGL. However, pathogenic mechanism and clinical impact anti-PLIN1 remain unsolved. The prevalence an cohort...
Some techniques for the evaluation of insulin resistance (IR), such as clamp technique, are not viable study large populations; and this reason, alternative approaches based on fasting plasma glucose (FPG) (FPI) have been proposed. The aim was to compare IR calculations obtained from FPI FPG values with sensitivity (IS) index derived minimal model. Eighty-seven healthy subjects a wide range body mass (18 - 44 kg × m-2) 16 DM2 non-obese patients were included in study. All underwent...
Phenotypic features appeared after puberty in female, but not male subjects with familial partial lipodystrophy (FPLD). We have studied anthropometrical, clinical, and metabolic gender differences a Spanish family FPLD resulting from lamin A/C gene mutation, R482W. Genetic studies were carried out on 14 members of the family. In eleven heterozygous mutation carriers (6 men, 5 women), body composition was evaluated by bioelectric impedance analysis, skin-fold measurements taken, lipid...