Link Between Genes and a Person’s Ability to Exercise Found
Thu, January 27, 2022

Link Between Genes and a Person’s Ability to Exercise Found


A team of scientists from King’s College London has found a link between genes and a person’s ability to exercise.


The genetic mutation

The study, which appeared in the New England Journal of Medicine, details how the authors found a genetic mutation that reduces a person’s ability to exercise efficiently. Such a genetic mutation likewise affects the individual’s cellular oxygen sensing (how cells sense and adapt to oxygen availability) and the limited exercise ability of a person.

Silverio Perrotta, M.D. and colleagues found a patient with persistent hypoglycemia (low level of glucose), limited exercise capacity, a high number of red blood cells, and a reduced growth rate. They then conducted a protein and genetic analysis on the said patient, carried out metabolic tests, determined their respiratory physiology in high altitude, and assessed their exercise capacity.


Why assess the patient’s respiratory physiology at high altitude?

A previous study has shown that our lungs are the interface between the metabolic mechanisms of the body and the environment. The organ plays an important role when the body is exposed to high altitude, which is a challenge because of the progressive reduction of barometric or atmospheric pressure and oxygen pressure. This means that the human body has both short- and long-term adaptations to altitude that allow it to compensate for lack of oxygen. This is why mountain climbers created a term death zone of above 8,000 meters (26,247 feet)--because there is not enough available oxygen for humans to breathe. Acute altitude exposure leads to hyperventilation and elevated heart rate. These enable the body to achieve enough oxygen supply to the tissues. For Dr. Perrotta and the team’s study, they only used a simulated high altitude to assess the patient’s exercise capacity.



The von Hippel-Lindau (VHL) gene

The team likewise highlighted the von Hippel-Lindau (VHL) gene. According to them, the gene is important for the cells to survive when there is reduced oxygen availability in the body. After a genetic analysis, the team found that alteration of the VHL gene was linked with impaired muscle mitochondria respiratory function. Mitochondria are organelles that can be considered as the power generators of cells, converting nutrients and oxygen into the adenosine triphosphate or the chemical energy “currency” of the cell, explains Florida State University’s Molecular Expressions. The FSU was not part of the study conducted by King’s College London.


Comparing the patient’s gene mutation with other subjects

Dr. Perrotta and the team went on to state that reduced mitochondrial function efficiency limits their subject’s capacity for aerobic exercise compared to those without the said gene mutation.

One of the leading scientists of the study, Dr. Federico Formenti from the School of Basic and Medical Biosciences said via science research platform Science Daily that their discovery of the gene mutation and its phenotype or the set of observable characteristics is “exciting.” He believes that the gene mutation will give researchers a better understanding of the human physiology, particularly as to our body senses and respond if there is limited oxygen availability.


Physical activity: statistics

The World Health Organization says that “insufficient physical activity is one of the leading risk factors for death worldwide.” It is also a risk factor for noncommunicable diseases, such as diabetes, cancer, and cardiovascular diseases. Physical activity refers to any bodily movement that is produced by the skeletal muscles that require energy expenditure. The specialized agency recommends at least 60 minutes of moderate to vigorous-intensity physical activity every day for children and adolescents aged 5 to 17 years old. If the physical activity is longer than 60 minutes, it will provide additional benefits to one's health. For adults aged 18 to 64, they should do at least 150 minutes of moderate-intensity physical activity in a week or at least 75 minutes of vigorous-intensity physical activity per week. Adults 65 years and above should do at least 150 minutes of moderate-intensity physical activity per week.

Moderate-intensity exercises include cycling, walking, or doing sports. Sadly, only one in three children today is physically active every day and less than 5% of adults in the US participate in 30 minutes of physical activity every day. This is according to the US Department of Health Human Services (HHS). Meanwhile, the US Bureau of Labor Statistics published an American Time Use Survey that details the number of people who spend time doing exercise and sports activities.



People engaged in exercise or sports, by educational attainment

Among individuals aged 25 years and older who exercise or do sports on an average day, nearly 25% of them have a bachelor’s degree or higher. This is followed by people with some college or associate degree, which is nearly 15%, those with a high school diploma or less (more than 10%), and less than a high school diploma (10%).

The most popular exercise or sports activities are walking (30.0%), weightlifting (13.1%), using cardiovascular equipment (12.7%), swimming, surfing, and water skiing (8.4%), running (7.1%), basketball (5.1%), golfing (4.1%), cycling (3.2%), aerobics (3.1%), bowling (2.0%), racquet sports (1.6%), football (1.5%), baseball, softball (1.4%), dancing (1.4%), yoga (1.3%), soccer (1.2%), volleyball (0.8%), and hiking (0.8%). The BLS data was based on a 2003 to 2006 survey.

In a survey involving 8,000 people living in the US and Europe, it found that an average of 72% of people set their fitness goals. Nearly 29% claimed they hit their target most of the time and 5% said they would always fail their fitness goal. The survey was commissioned by GPS sports watches and navigation products maker TomTom. In a total of eight countries, the US leads the rank, followed by Spain, and France.


Why people exercise

In another survey conducted by database company Statista involving 1,075 respondents between 18 to 69 years old, the common reasons for exercise or sports activity were to stay healthy (78%), to reduce weight (47%), to optimize strength and/or endurance (45%), to get a better-looking body (43%), to optimize appearance (34%), because sports provide a welcome counterbalance to stress in everyday life (26%), because it is a good occasion to meet friends (11%), and other reasons (2%).

The King’s College London findings may help improve our understanding of the interactive functions of the body in general and the genetic influences on exercise.