Nat Med: A single gene mutation may cause many of us to grow 30 pounds of fat!

The latest study found that about 1 in 340 people may carry a single-gene mutation of MC4R.

The latest study found that about 1 in 340 people may carry a single-gene mutation of MC4R.

The study was led by Stephen O'Rahilly of the MRC Metabolic Disease Group at the University of Cambridge and Nicholas J.

The study was led by Stephen O'Rahilly of the MRC Metabolic Disease Group at the University of Cambridge and Nicholas J.

For a long time, people have known that obesity often occurs in families, but it was not until about 20 years ago that scientists began to discover that changes in specific genes would have a great impact on our weight even from childhood.

For a long time, people have known that obesity often occurs in families, but it was not until about 20 years ago that scientists began to discover that changes in specific genes would have a great impact on our weight even from childhood.

One of the genes, the melanocortin 4 receptor (MC4R), makes a protein that is produced in the brain, where it sends a signal to our appetite centers to tell them how much fat we store.

Melanocortin 4 receptor (MC4R) is a G protein-coupled, seven transmembrane receptor, widely expressed in the central nervous system.

Previous studies have described the existence of many MC4R LoF mutations in obese individuals and families.

In this study, the researchers examined the melanocortin 4 receptor (MC4R) coding sequence of 5,724 participants from the Avon Longitudinal Study of Parents and Children, performed functional characterization of all non-synonymous MC4R variants, and checked They are associated with anthropometric phenotypes from childhood to early adulthood.

Prevalence assessment of MC4R LoF identified by cAMP accumulation in ALSPAC samples

Prevalence assessment of MC4R LoF identified by cAMP accumulation in ALSPAC samples

The results of the study showed that MC4R LoF carrying status has a significant impact on BMI, body weight, fat mass and lean body mass, which can be detected as early as 5 years old.

The results of the study showed that MC4R LoF carrying status has a significant impact on BMI, body weight, fat mass and lean body mass, which can be detected as early as 5 years old.

Correlation between average body weight over time and MC4R LOF (cAMP accumulation)

Correlation between average body weight over time and MC4R LOF (cAMP accumulation)

Correlation between BMI and MC4R LOF at different ages (cAMP accumulation)

Correlation between BMI and MC4R LOF at different ages (cAMP accumulation)

Correlation between MC4R CAMP (cAMP accumulation) and BMI trajectory between 18 months and 18 years of age

Correlation between MC4R CAMP (cAMP accumulation) and BMI trajectory between 18 months and 18 years of age

The researchers conducted a longitudinal analysis to examine the association between MC4R LoF mutations and BMI, weight, and height trajectories.

The researchers conducted a longitudinal analysis to examine the association between MC4R LoF mutations and BMI, weight, and height trajectories.

There is little evidence that birth weight (average 3.

A particular advantage of ALSPAC is that it provides strong longitudinal phenotypic data throughout childhood, adolescence and adulthood.

Cambridge University Stephen O'Rahilly professor is one of the authors of the study, he said:.
"Obese children's parents often been accused of poor parenting their children, not all children receive appropriate professional help Our findings suggest It is not uncommon to gain weight in childhood due to a single genetic disorder.
This should encourage a more compassionate and rational approach to overweight children and their families-including genetic analysis of all severely obese children.
" Stephen O' Professor Rahilly

In summary, this study shows that the MC4R LoF mutation has a significant effect on obesity characteristics, and its effect begins in childhood and continues into adult life.
The estimates here are complementary to existing research, but the situation is naturally different given the sampling framework and data types reported here.
Nevertheless, this study shows that heterozygous mutations that severely impair the function of the MC4R gene are likely to exist in millions of people around the world, and will increase weight and obesity from an early age, and persist throughout life.
Given the definite association between MC4R LoF mutations and obesity complications such as type 2 diabetes and coronary artery disease, this has important clinical implications for the long-term health of individual carriers, who, on average, may carry ~15 kg of extra fat Enter adult life.

In conclusion, this study shows that MC4R LoF mutation has a significant effect on obesity characteristics, and its effect begins in childhood and continues into adult life.
The estimates here are complementary to existing research, but the situation is naturally different given the sampling framework and data types reported here.
Nevertheless, this study shows that heterozygous mutations that severely impair the function of the MC4R gene are likely to exist in millions of people around the world, and will increase weight and obesity from an early age, and persist throughout life.
Given the definite association between MC4R LoF mutations and obesity complications such as type 2 diabetes and coronary artery disease, this has important clinical implications for the long-term health of individual carriers, who, on average, may carry ~15 kg of extra fat Enter adult life.
MC4R LoF mutation has a significant impact on obesity characteristics, and its impact begins in childhood and continues into adult life.
MC4R LoF mutation has a significant impact on obesity characteristics, and its impact begins in childhood and continues into adult life.
Serious damage to the MC4R gene function heterozygous mutation is likely to be present in millions of people worldwide, the severe damage MC4R gene function heterozygous mutation is likely to be present in millions of people worldwide, the view of the MC4R LoF mutations associated with obesity complications such as 2 Type DiabetesThere is a definite association with coronary artery disease, which has important clinical significance for the long-term health of individual carriers.
On average, they may carry ~15 kg of extra fat into adult life.
Given the definite association between MC4R LoF mutations and obesity complications such as type 2 diabetes and coronary artery disease, this has important clinical implications for the long-term health of individual carriers.
On average, they may carry ~15 kg of additional diabetes .
Fat enters adult life.

The prevalence of MC4R deficiency is 1 in 340 and can no longer be regarded as a "rare disease".
The definition of a rare disease in the UK is a prevalence rate of <1/2,000, while in the United States, the nationally affected patients are <200,000.
If the prevalence in the United States reflects the findings in the United Kingdom, researchers predict that the weight of approximately one million Americans has increased significantly because of the MC4R mutation.
In MC4R LoF mutation carriers, efforts to reduce obesity and maintain a healthy weight through diet and physical activity may need to start early in life and be a practical goal to minimize the risk of obesity later in life.
Pharmacologically enhancing the residual undamaged melanocortin signal can provide these patients with a clinically useful supplement for such measures.
The size of the population that may be affected should help stimulate investment in such treatments.

The prevalence of MC4R deficiency is 1 in 340 and can no longer be regarded as a "rare disease".
The definition of a rare disease in the UK is a prevalence rate of <1/2,000, while in the United States, the nationally affected patients are <200,000.
If the prevalence in the United States reflects the findings in the United Kingdom, researchers predict that the weight of approximately one million Americans has increased significantly because of the MC4R mutation.
In MC4R LoF mutation carriers, efforts to reduce obesity and maintain a healthy weight through diet and physical activity may need to start early in life and be a practical goal to minimize the risk of obesity later in life.
Pharmacologically enhancing the residual undamaged melanocortin signal can provide these patients with a clinically useful supplement for such measures.
The size of the population that may be affected should help stimulate investment in such treatments.
In MC4R LoF mutation carriers, efforts to reduce obesity and maintain a healthy weight through diet and physical activity may need to start early in life and be a practical goal to minimize the risk of obesity later in life.
In MC4R LoF mutation carriers, efforts to reduce obesity and maintain a healthy weight through diet and physical activity may need to start early in life and be a practical goal to minimize the risk of obesity later in life.

Original source:

Original source: Original source: Original source:

Wade, KH, Lam, BYH, Melvin, A.
et al.
Loss-of-function mutations in the melanocortin 4 receptor in a UK birth cohort.
Nat Med (2021).
https://doi.
org/10.
1038/s41591- 021-01349-y

Wade, KH, Lam, BYH, Melvin, A.
et al.
Loss-of-function mutations in the melanocortin 4 receptor in a UK birth cohort.
Nat Med (2021).
https://doi.
org/10.
1038/s41591- 021-01349-y Loss-of-function mutations in the melanocortin 4 receptor in a UK birth cohort.


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