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Non-Syndromic Monogenic Obesity Panel Test Service

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Overview

Monogenic Obesity is usually accompanied by abnormal function of key proteins in appetite regulation and energy metabolism pathways, which causes severe weight gain. It can be categorized into syndromic monogenic obesity and non-syndromic monogenic obesity. Accurate diagnosis of non-syndromic monogenic obesity is essential for assessing obesity risk and developing personalized interventions.

Unlocking the Genetic Roots of Monogenic Obesity

Protheragen provides a non-syndromic monogenic Obesity Panel Testing service to meet the demand for accurate obesity diagnosis. Based on advanced sequencing technology, we provide comprehensive and in-depth analysis of multiple core genes known to be closely associated with non-syndromic monogenic obesity.

Sample Collection and Processing

Upon receipt of the samples, we perform initial processing and DNA extraction. Through multi-dimensional quality control, the concentration, purity, and integrity of the DNA obtained meet the requirements for subsequent sequencing.

Sequencing

The sequence and copy number of non-syndromic single-gene obesity-related genes are examined using next-generation sequencing (NGS), Sanger sequencing, or other gene sequencing technologies.

ADCY3 LEP NTRK2 SH2B1
CEP19 LEPR PCSK1 SIM1
DYRK1B MC4R POMC KSR2
NROB2 PPARG UCP3

Bioinformatics Analysis

We start by preprocessing the raw sequencing data and aligning the sequences to the reference genome. Leveraging powerful bioinformatics tools, we then pinpoint genetic variants linked to obesity and conduct an in-depth analysis of their predicted biological impact. All results are compiled into a detailed report, which covers the identified genetic variants, their clinical interpretation, implications for risk, and other essential scientific context, all presented in a clear, comprehensive, and easy-to-understand format.

Workflow

Process of our non-syndromic monogenic obesity panel test service. (Protheragen)

Applications

  • The non-syndromic monogenic obesity panel test is used for in-depth genetic characterization to provide insight into the genome and useful information for detailed assessment of obesity risk.
  • The non-syndromic monogenic obesity panel test plays an important role in developing preventive measures based on the risk of obesity in order to reduce the likelihood of developing obesity and related metabolic diseases in the future.
  • The non-syndromic monogenic obesity panel test is used to analyze genetic factors in weight management and provides useful information for developing targeted intervention strategies.

Advantages

  • Our panel design focuses on non-syndromic monogenic obesity and contains core and meaningful genes for in-depth analysis.
  • High-standard sequencing platforms and rigorous experimental procedures are used to ensure the accuracy and reliability of the assay data.
  • Our bioinformatics team utilizes rich database resources for analysis to ensure the accuracy of variant analysis.

One-stop Anti-obesity Research Support

We also provide one-stop anti-obesity research services, which include the following:

Publication Data

Journal: Obesity Reviews

IF: 8

Published: 2024

Results: Leptin-melanocortin pathway genes are often referred to as nonsyndromic monogenic obesity genes. This paper summarizes several publications and provides a systematic review of the medical semiotics of monogenic nonsyndromic obesity in patients with non-syndromic obesity across eight genes of the leptin-melanocortin pathway, including non-mandatory, mandatory, and distinctive symptoms in both pure and heterozygous carriers of mutations in eight monogenic obesity genes. The classical distinction between syndromic and non-syndromic obesity is largely based on the presence of dysmorphic features, neurodevelopmental disorders, and organ-specific abnormalities. This study highlights the diversity of symptoms associated with mutations in the leptin-melanocortin pathway genes and provides useful information to help target genetic testing to patients with suspected monogenic obesity and provide viable treatment options.

Fig.1 Flow diagram for the systematic review. Fig.1 PRISMA 2020 flow diagram. (Renard, et al., 2024)

Frequently Asked Questions

  1. What is non-syndromic monogenic obesity?

    Non-syndromic monogenic obesity is thought to usually result from defects in the leptin-melanocortin pathway, which plays a crucial role in energy homeostasis. Most of the genes involved in this pathway have been extensively studied, including MC4R, POMC, SIM1, PCSK1, and LEPR. Signals from peripheral tissues are processed in the hypothalamus and regulate food intake, ultimately affecting weight change.

  2. What are the representative genes contained in the non-syndromic monogenic obesity panel?
    • MC4R: MC4R is an important receptor in the leptin-melanocortin signaling pathway, which regulates appetite and energy balance. Abnormalities in MC4R lead to impaired receptor function, causing obesity.
    • LEPR: LEPR is a leptin receptor gene, and mutations in LEPR result in the failure of leptin signaling, which can lead to hyperphagia and obesity.
    • PCSK1: PCSK1 is an enzyme that cleaves peptide precursors such as pro-opiomelanocortin (POMC) to produce functional neuropeptides. PCSK1 defects affect the production of many hormones and neuropeptides, leading to obesity and endocrine dysfunction.
    • Other types

Protheragen utilizes cutting-edge sequencing platforms and focuses on providing highly accurate obesity-related genetic analysis services. By screening for genetic variants that are strongly associated with obesity, in order to provide exclusive insight into genetic information. To experience the value of this service, please contact us today!

Reference

  1. Renard, E.; et al. Medical semiology of patients with monogenic obesity: A systematic review. Obesity Reviews. 2024, 25(10): e13797. (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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