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PCSK1 Gene Test Service

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Overview

Obesity is caused by an imbalance between caloric intake and expenditure, resulting from environmental and genetic factors. Monogenic Obesity has an explicit hereditary nature, with rapid progression, high obesity, and multiple complications, so the identification of causative genes is of great significance to the pathogenesis of single-gene obesity. Protheragen provides genetic testing services designed to meet clients' needs for in-depth exploration of specific genes.

Screening for Pathogenic Variants Using Whole-Exome Sequencing

Our company has an experienced genetic testing team and highly sensitive tools to help our clients complete their testing programs quickly. Our goal is to comprehensively identify potential variants and dig deep into the link between obesity and the PCSK1 gene.

  • Utilizing advanced whole-exome sequencing, we accurately screen the PCSK1 gene in target samples to identify potential genetic variants.
  • We conduct in-depth analyses of screened genetic variants, including variant type, location, and impact on protein function, to provide our clients with detailed variant information.

Moreover, our lab provides a variety of animal models for PCSK1 gene editing research. For gene-editing models, we provide a series of specialized testing services.

(Protheragen)

  • Body weight and composition analysis
  • Food intake
  • Glucose tolerance tests
  • Insulin and proinsulin enzyme-linked immunosorbent assay (ELISA)
  • SNP mapping and whole genome sequencing
  • Quantitative polymerase chain reaction (PCR) analysis

Workflow

Schematic of PCSK1 gene testing. (Protheragen)

Applications

  • The PCSK1 gene testing service provides insight into the function of the gene in the organism, its regulatory mechanism, and its relationship with disease.
  • PCSK1 gene testing service offers new targets for drug development.
  • PCSK1 genetic testing service can be used to screen for disease-causing mutations in obese groups.

Advantages of Us

  • Our use of whole-exome sequencing has the advantage of high sensitivity for both common and rare variants and is well-suited for analyzing hereditary obesity.
  • Our lab not only tests genes for mutations but also screens for rare pathogenic variants to provide new clues to the pathogenesis of obesity.
  • Our company provides reliable functional validation services to validate the pathogenicity of genetic variants in cellular and animal models.

Comprehensive Analysis Services

Publication Data

Technology: ELISA, Whole genome sequencing, Quantitative PCR analysis

Journal: Mammalian Genome

Published: 2020

IF: 2.723

Results: This paper reports the discovery of a novel mutation in the mouse PCSK1 gene and investigates the physiological and metabolic effects of this mutation in mice. The mutant mice had significantly increased food intake compared to wild-type mice, which has contributed to their obesity. It was found that the V96L mutation caused the PCSK1 protein to be retained in the endoplasmic reticulum, which prevented it from performing its physiological functions properly and, thus, affected the maturation and secretion of hormones such as insulin. This study suggests that the V96L mutation found in the mouse PCSK1 gene is one of the important genetic factors leading to obesity and diabetes.

Fig.1 Hyperproinsulinaemia in Pcsk196L/96L mice. Fig.1 Analysis of hyperinsulinemia in mice. (Muhsin, et al., 2020)

Frequently Asked Questions

  1. Where is the PCSK1 gene commonly expressed, and what is its function?

    The PCSK1 gene is specifically expressed in seven tissues, including the brain and adrenal gland, and is involved in the hydrolytic activation of peptide hormones and neuropeptide precursors. Its mutation is associated with an increased risk of obesity and preprotein convertase 1/3 deficiency.

  2. What diseases are associated with the PCSK1 gene?

    Diseases associated with the PCSK1 gene include, but are not limited to, obesity, leptin deficiency or dysfunction, enteric anendocrinosis, pancreatic neuroendocrine tumor, Kallmann syndrome, Prader-Willi syndrome, polycystic kidney disease 1, caspase 8 deficiency, type 1 diabetes mellitus 12, and Huntington disease. We are happy to help our clients analyze the association of the PCSK1 gene with these diseases.

Protheragen provides comprehensive gene identification information that is important for disease research, drug discovery, genetic counseling, and other fields. Our team consists of experienced researchers with deep backgrounds in genetics, molecular biology, and other fields to provide professional support to our clients. Feel free to contact us for the most reliable support!

Reference

  1. Muhsin, N.I.; et al., A novel mutation in the mouse Pcsk1 gene showing obesity and diabetes. Mammalian Genome. 2020, 31: 17-29. (CC BY 4.0)

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.

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