Related Experiment Video
Updated: Jul 20, 2026
14:56
Sample Preparation to Bioinformatics Analysis of DNA Methylation: Association Strategy for Obesity and Related Trait Studies
Published on: May 6, 2022
The severely obese patient--a genetic work-up
1University Department of Medicine, Addenbrooke's Hospital, Cambridge, UK. isf20@cam.ac.uk
Nature Clinical Practice. Endocrinology & Metabolism
|August 26, 2006
Summary
A genetic mutation in the melanocortin 4 receptor gene caused severe obesity in a child. This dominant genetic condition runs in the family, impacting the child and his father.
Area of Science:
- Genetics
- Endocrinology
- Pediatrics
Background:
- Investigated a 6-year-old boy with severe obesity and hyperphagia.
- Suspected a genetic obesity syndrome due to family history of obesity.
Observation:
- Physical examination and genetic testing of the patient and parents.
- Measured serum leptin, insulin, lipid profile, and thyroid function.
Findings:
- Identified a heterozygous missense mutation in the melanocortin 4 receptor (MC4R) gene.
- The MC4R mutation segregated in a dominant pattern within the family.
Implications:
- Highlights the role of MC4R mutations in inherited obesity syndromes.
- Informs genetic counseling and management strategies for affected families.
Related Concept Videos
01:20Pharmacokinetics in Obese Patients: Drug Metabolism and Excretion
Drug metabolism, a critical process in the liver, involves two primary phases: Phase I reactions and Phase II conjugation. Obesity introduces significant alterations in this metabolic process, primarily due to fatty infiltration of the liver, leading to conditions such as nonalcoholic fatty liver disease (NAFLD). This condition can modify the activities of both Phase I and II enzymes, impacting how drugs are metabolized in obese patients.Phase I metabolism sees variable effects across...
01:21Drug Dosing: Obese Patients
In the United States, obesity is a prominent concern. It is linked to heightened mortality rates due to increased occurrences of conditions such as hypertension, atherosclerosis, coronary artery disease, and diabetes compared to nonobese individuals. A patient is classified as obese if their actual body weight surpasses the ideal or desirable body weight by 20%, based on Metropolitan Life Insurance Company data. Ideal body weights consider average weights and heights for males and females...
01:25Pharmacokinetics in Obese Patients: Drug Absorption and Distribution
Obesity significantly alters the pharmacokinetic processes of drug absorption and distribution, presenting unique challenges in medical treatment. The increased fat tissue and decreased lean muscle in obese individuals can significantly affect how drugs are absorbed into the body and distributed across different tissues. This alteration can lead to variances in the effectiveness and safety of medications, necessitating adjustments in dosing or drug selection for obese patients.One notable...
01:24Obesity
The Body Mass Index (BMI) is a numerical value derived from a person's weight and height, used to categorize individuals into weight ranges. It is calculated using the formula: weight in kilograms divided by height in meters squared. Obesity is a health condition characterized by excessive accumulation of adipose tissue that poses health risks, often diagnosed with a BMI ≥ 30. This excess fat storage occurs when surplus dietary calories are converted into triglycerides and stored in adipocytes...
01:29Pharmacogenomics: Identification of New Drug Targets
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
01:11Genome-wide Association Studies-GWAS
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...