Portal de investigación
A Very Rare Variant in SREBF2, a Possible Cause of Hypercholesterolemia and Increased Glycemic Levels.
Fecha de publicación:
Fecha Ahead of Print:
Autores de INCLIVA
Participantes ajenos a INCLIVA
- Vernia, S
- Ivorra, C
- Pulido, I
- Martin-Escudero, JC
- Casado, M
- Carretero, J
Grupos y Plataformas de I+D+i
Abstract
Patients with high cholesterol and glucose levels are at high risk for cardiovascular disease. The Sterol Regulatory Element Binding Protein (SREBP) system regulates genes involved in lipid, cholesterol and glucose pathways. Autosomal Dominant Hypercholesterolemias (ADHs) are a group of diseases with increased cholesterol levels. They affect 1 out of every 500 individuals. About 20-30% of patients do not present any mutation in the known genes (LDLR, APOB and PCSK9). ADHs constitute a good model to identify the genes involved in the alteration of lipid levels or possible therapeutic targets. In this paper, we studied whether a mutation in the SREBP system could be responsible for ADH and other metabolic alterations present in these patients. Forty-one ADH patients without mutations in the main responsible genes were screened by direct sequencing of SREBP system genes. A luciferase reporter assay of the found mutation and an oral glucose tolerance test in carriers and non-carriers were performed. We found a novel mutation in the SREBF2 gene that increases transcription levels and cosegregates with hypercholesterolemia, and we found increased glucose levels in one family. SREBP2 is known to be involved in cholesterol synthesis, plasma levels and glucose metabolism in humans. The found mutation may involve the SREBF2 gene in hypercholesterolemia combined with hyperglycemia.
Datos de la publicación
- ISSN/ISSNe:
- 2227-9059, 2227-9059
- Tipo:
- Article
- Páginas:
- -
- PubMed:
- 35625914
Biomedicines MDPI AG
Citas Recibidas en Web of Science: 5
Documentos
Filiaciones
Keywords
- SREBP system; diabetes; genetic disease; hyperglycemia; hyperlipidemia; mutation
Financiación
Proyectos y Estudios Clínicos
Multifactorial study to identify novel genetic and non-genetic factors implicated in type 2 diabetes through exome sequencing and artificial intelligence.
Investigador Principal: FELIPE JAVIER CHAVES MARTÍNEZ
PI21/00506 . INSTITUTO SALUD CARLOS III . 2022
Cita
Garcia AB,Martinez S,Vernia S,Ivorra C,Pulido I,Martin JC,Casado M,Carretero J,Real JT,Chaves FJ. A Very Rare Variant in SREBF2, a Possible Cause of Hypercholesterolemia and Increased Glycemic Levels. Biomedicines. 2022. 10. (5):1178. IF:4,700. (1).
A Very Rare Variant in SREBF2, a Possible Cause of Hypercholesterolemia and Increased Glycemic Levels. Garcia AB, Martinez S, Vernia S, Ivorra C, Pulido I, Martin JC, Casado M et al. Biomedicines. 2022 mayo 19. 10 (5):DOI:10.3390/biomedicines10051178. PMID:35625914.
