Video Experimental Relacionado

Updated: Apr 14, 2026

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq

Published on: April 19, 2013

Las variantes de secuencia en SLC16A11 son un factor de riesgo común para la diabetes tipo 2 en México

, Amy L Williams, Suzanne B R Jacobs

|January 7, 2014

Resumen

Los estudios genéticos en latinoamericanos revelan un nuevo gen de riesgo de diabetes tipo 2, SLC16A11. Este gen, vinculado al ADN neandertal, afecta el metabolismo de los lípidos y los niveles de triacilglicerol, ofreciendo información sobre los orígenes y las disparidades de las enfermedades.

Área de la Ciencia:

Genética La genética.
Genética de la población humana Genética de la población humana
Trastornos metabólicos Los trastornos metabólicos son trastornos metabólicos que se producen en el cuerpo.

Sus antecedentes:

Los estudios genéticos en diversas poblaciones humanas pueden descubrir alelos de riesgo de enfermedad específicos de la población.
Comprender estos alelos es crucial para aclarar la fisiopatología de la enfermedad y las disparidades de salud.

Objetivo del estudio:

Identificar nuevos loci genéticos asociados con la diabetes tipo 2 en poblaciones mexicanas y latinoamericanas.
Investigar los orígenes evolutivos y el impacto funcional de los alelos de riesgo identificados.

Principales métodos:

Estudio de asociación de todo el genoma (GWAS) de 9.2 millones de polimorfismos de nucleótido único (SNPs) en 8.214 individuos (3.848 con diabetes tipo 2, 4.366 controles).
Análisis de replicación en muestras independientes.
Análisis de secuencias del genoma arcaico para mezcla.
Estudios de ARN mensajero (ARNm) y expresión de proteínas en el hígado y células heterólogas.
Ensayos funcionales de SLC16A11 en el metabolismo de los lípidos.

Principales resultados:

Se identificó un nuevo locus de riesgo de diabetes tipo 2 de importancia para todo el genoma, que abarca SLC16A11 y SLC16A13.
El alelo de riesgo, presente en ~50% de las muestras de nativos americanos, mostró una asociación más fuerte en individuos más jóvenes y delgados con diabetes tipo 2.
El análisis del genoma arcaico sugirió introgestión neandertal del haplotipo de riesgo.
La expresión de SLC16A11 en las células hepáticas alteró el metabolismo de los lípidos, aumentando los niveles intracelulares de triacilglicerol.

Conclusiones:

SLC16A11 es un nuevo gen candidato para la diabetes tipo 2 en las poblaciones latinoamericanas.
El alelo de riesgo identificado tiene orígenes antiguos, potencialmente introgresivo de los neandertales.
SLC16A11 puede desempeñar un papel en el metabolismo del triacilglicerol, contribuyendo a la fisiopatología de la diabetes tipo 2.

Más Videos Relacionados

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Videos de Conceptos Relacionados

Comparing Copy Number Variations and SNPs

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...

Glucose Transporters

Glucose Transporters

Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:

Diabetes Mellitus: Overview and Type I Subtype

Diabetes Mellitus: Overview and Type I Subtype

Diabetes mellitus is a chronic metabolic disorder characterized by high blood glucose levels due to inadequate insulin production, insulin resistance, or both. The condition affects millions worldwide and can significantly impact their health and quality of life.
Type 1 diabetes is an autoimmune disease in which the immune system mistakenly attacks and destroys the insulin-producing beta cells in the pancreas. As a result, the body is unable to produce sufficient insulin, and individuals with...

Diabetes Mellitus: Type 2 and Gestational

Diabetes Mellitus: Type 2 and Gestational

Type 2 diabetes, characterized by insulin resistance, arises when the insulin receptors on cells lose responsiveness to insulin, diminishing the cell's capacity to take up glucose, resulting in elevated blood glucose levels. To receive a diagnosis of Type 2 diabetes, a series of blood glucose tests are necessary to assess whether the blood glucose falls within normal parameters. If the result is out of the normal range, a patient may be diagnosed as prediabetic or diabetic, depending on the...

Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters

Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters

The pharmacogenetics of drug transporters is increasingly recognized as a critical factor influencing interindividual variability in drug absorption, distribution, and elimination. These membrane-bound proteins regulate drugs' movement across cellular barriers by actively pumping them out (efflux) or facilitating their uptake (influx). Among the major transporter families, ATP-binding cassette (ABC) and solute carrier (SLC) transporters play particularly prominent roles. Genetic polymorphisms...

Pathophysiology of Diabetes

Pathophysiology of Diabetes

Diabetes mellitus is a chronic metabolic disorder characterized by hyperglycemia. The four categories of diabetes are type 1 diabetes, type 2 diabetes, other specific types of diabetes, and gestational diabetes.
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility,...