Clinical, molecular genetics and therapeutic aspects of syndromic obesity

Abstract

Obesity has become a major health problem worldwide. To date, more than 25 different syndromic forms of obesity are known in which one (monogenic) or multiple (polygenic) genes are involved. This review gives an overview of these forms and focuses more in detail on 6 syndromes: Prader Willi Syndrome and Prader Willi like phenotype, Bardet Biedl Syndrome, Alström Syndrome, Wilms tumor, Aniridia, Genitourinary malformations and mental Retardation syndrome and 16p11.2 (micro)deletions. Years of research provided plenty of information on the molecular genetics of these disorders and the obesity phenotype leading to a more individualized treatment of the symptoms, however, many questions still remain unanswered. As these obesity syndromes have different signs and symptoms in common, it makes it difficult to accurately diagnose patients which may result in inappropriate treatment of the disease. Therefore, the big challenge for clinicians and scientists is to more clearly differentiate all syndromic forms of obesity to provide conclusive genetic explanations and eventually deliver accurate genetic counseling and treatment. In addition, further delineation of the (functions of the) underlying genes with the use of array- or next-generation sequencing-based technology will be helpful to unravel the mechanisms of energy metabolism in the general population.

A Combination of Proteomic Approaches Identifies A Panel of Circulating Extracellular Vesicle Proteins Related to the Risk of Suffering Cardiovascular Disease in Obese Patients

“…The prevalence of obesity represents one of the biggest health problems in industrialized countries. Obesity is considered a metabolic disorder characterized by an imbalance between energy intake and expenditure resulting in an excess of adipose tissue . Besides, obese patients have an increased risk for developing other pathologies, such as cardiovascular diseases (CVD), primarily the development of atherothrombosis .…”

“…Obesity is considered a metabolic disorder characterized by an imbalance between energy intake and expenditure resulting in an excess of adipose tissue. [1] Besides, obese patients have an increased risk for developing other pathologies, such as cardiovascular diseases (CVD), primarily the development of atherothrombosis. [2] Nevertheless, the pathophysiological mechanisms underlying the development of obesity-induced CVD are still poorly understood, and a biomarker indicating these obese individuals at risk would be extremely useful, even in asymptomatic individuals.…”

Integrated Transcriptome Analyses Revealed Key Target Genes in Mouse Models of Autism

“…The following information on included studies was collected: first author, gene symbol, age of mice, analyzed brain region, test platform, database, and project number. With all above, the major clinical information related to these mutant genes was collected from OMIM database and several reviews [Carratala-Marco et al, 2018;D'Angelo, Moller, Alonso, & Koiffmann, 2015;Geets, Meuwissen, & Van Hul, 2019;Merner et al, 2016;Tucci, Ciaccio, Scuvera, Esposito, & Milani, 2016].…”

Obesidad pediátrica: conceptos básicos para un abordaje multidisciplinario en Honduras

“…Las manifestaciones son similares a las del Bardet-Biedl pero sin presencia de retraso. El síndrome de Carpenter presenta alteraciones en el gen RAB23 del cromosoma 6p11 y cursa con obesidad, alteraciones digitálicas y craneosinostosis (Martos, et al, 2017;Geets et al, 2019;Lu y Loos, 2013).…”