DNA and Mutations

DNA and Mutations

Almost every cell in the body of all living things (including us) contains DNA. Different parts of DNA have additional information, called genes, passed from parents to children. Genes control everything from the color of your eyes to the shape of your feet.

Inside the cell is a structure called a chromosome, which contains proteins and DNA. Usually, there are 23 pairs of chromosomes. Mutations occur when the sequence of DNA changes. Modifications are necessary because without them, and evolution cannot take place.

Three causes cause mutations:

  1. Errors in replication while cells are dividing.
  2. Chemical or physical substances such as radiation, tobacco, or chemical radiation.
  3. Viral infections.

Down Syndrome

In the United States, approximately 6,000 babies are born with Down syndrome yearly. Typically, a baby is delivered with 46 chromosomes — 23 from the mother and 23 from the father. Babies with Down syndrome have an extra copy of chromosome 21, which affects the baby’s body and brain development.

People with Down syndrome may have similar behavioral patterns and share some physical characteristics, but they are just as different as any other person. While it is true that people having Down syndrome may have a lower IQ than the general population, this also varies from person to person.

People with Down syndrome have a shorter life expectancy than the general population, but this tends to increase over time. The leading cause of death is a respiratory disease or congenital heart problems, although why they seem more susceptible to these diseases is unclear.

Cystic Fibrosis

Cystic fibrosis is an inherited disease. The disease affects the digestive system, lungs, and other organs. It involves the cells that produce digestive juices, sweat, and mucus. In healthy people, these fluids act as lubricants. But these fluids tend to be thick and sticky in people with cystic fibrosis. Because of these characteristics, fluid clogs the lungs and pancreas’ passages, tubes, and ducts.

In the United States, about 30,000 people live with this condition. It is a progressive disease that requires daily care and causes early death, although life expectancy continues to increase.

In 1938, scientists recognized cystic fibrosis as a separate disease. At that time, patients with the disease could live just six months after being diagnosed. Although there is no cure, many medications and treatments are available to help ease symptoms.

Sickle Cell Anemia

About 100,000 Americans have sickle cell anemia. The disease is most common in people of African, Mediterranean, or Middle Eastern descent. The only cure is a bone marrow transplant or stem cell transplant.

A red blood cell is spheroidal and lives for about 120 days. When people have sickle cell anemia, the blood cells take on a sickle shape and die within 20 days. Due to their size, affected cells become sticky and stiff and block blood flow. These cells transport oxygen throughout the body much less efficiently.

Symptoms usually emerge when the affected person is about six months old. Symptoms are caused by inadequate oxygen supply or blood flow obstruction and may include any of the following:

  • anemia
  • pain
  • swelling of the hands and feet
  • frequent infections
  • delayed puberty and growth
  • vision problems

Medications such as blood transfusions can reduce pain and prevent some complications.

Huntington’s Disease

This disease can occur at any time in a person’s life, although it most often occurs when a person is in their 30s or 40s. Huntington’s disease mainly involves the degeneration of cells in the brain. Most people who get it die within 15-20 years of being diagnosed.

In 1872, George Huntington first recognized the disease in East Hampton, a Long Island resident. This condition occurred by a genetic mutation on chromosome 4.

Huntington causes a wide range of symptoms. There may be motor, cognitive or psychiatric problems. There is no therapy for Huntington’s disease or way to stop its progression. Therapists can use treatments to ease some of the difficulties associated with it.


A staggering six million Americans have Alzheimer’s disease or related dementia.

It is a neurological illness in which the brain shrinks and cells die. This is the leading cause of dementia. Most researchers believe the proteins attack the brain, although genetic mutations cause some cases of Alzheimer’s passed down from parents to children. One of these proteins, amyloid, forms plaques around brain cells. The second, tau, confuses brain cells.

A human antibody(Aducanumab) is currently the only approved drug that can fight Alzheimer’s disease.

There is no sure way to avoid Alzheimer’s disease, but some research suggests that lifestyle choices can play a positive role in helping to prevent or delay the onset of Alzheimer’s disease. Regular exercise, a healthy diet plan, and doing things that challenge yourself mentally can all help.

The brain is an organ, and every organ needs nutrients and exercise. To help prevent this, consider eating a balanced lunch, going for a walk, then doing the crossword.


A study estimates that 70 million adults in the United States are obese. Obesity can be easily dismissed as a direct result of people making the wrong lifestyle choices.

However, things are not so simple. Obesity results from an imbalance that causes people to consume more calories than they burn. Converted to fat. The brain regulates food intake by reacting to signals. Signaling and response are gene-dependent, meaning that if genes have been mutated, they can distort the signal.

Fifty different genes appear to be involved in obesity, and researchers have found that genetic factors have a more significant influence than the environment. People do not choose fat; their brains are getting the wrong signals, and genetic mutations are causing the error.

  •       stomach cramps
  •       swelling

Treatment for lactose intolerance is to use lactate tablets or drops to break down lactose in the body. AvoidPeople can learn to override false signals, but it cannot be easy. Doctors may sometimes have to treat the disease with drastic surgery to replace the digestive tube. Being overweight increases your risk of diabetes, heart disease, stroke, and other diseases.


Type 2 diabetes increases the amount of glucose in the blood. Symptoms include fatigue, frequent urination, and extreme thirst. Although diabetes is often associated with being inactive or overweight, it can also result from an inherited gene mutation.

While lifestyle can play an important role, if your doctor diagnoses diabetes, it could have happened to a family member. Genetic or not, you can reduce your risk of diabetes by living a healthy lifestyle. Wield regularly and follow a healthy diet plan.

No cure is available for type 2 diabetes, but the condition can be controlled, and as long as they monitor their condition, those affected can lead everyday lives.


By far, cancer is the most common form of mutation in humans. About 40% of the population will get cancer at some point in their lives, and in the United States, about 1.6 million people are diagnosed with it each year. Cells become cancerous due to mutations in their genes. Cells divide and proliferate uncontrolled instead of replacing the number of cells the body needs.

Cancer can have many causes, such as environmental factors, lifestyle choices, and exposure to radiation and specific chemicals. The most common cancers in 2020 are breast, lung, and colon/rectal cancer.

Hemoglobin Disease

When anyone has problems with their iron levels, they’re usually deficient. But the opposite is also possible: hemoglobinopathy. It is caused by a mutation in the HFE gene, which results in an inability to remove excess iron. Accumulating too much iron in the body can cause severe damage to organs, especially the liver. Men are more likely than women to have hemoglobinopathy, which is more common in people of Nordic descent.

Treatment is done by removing blood from the body and avoiding iron-rich foods. Hemochromatosis requires constant monitoring, as patients often do not exhibit any symptoms.

 Lactose Intolerance

Mammals stop drinking milk after weaning, but most humans do not. Mammals stop producing lactase enzymes and cannot digest milk after ingesting other foods. A mutation in humans, which increased after animals were domesticated about 4,000 years ago, means that most of us continue to produce lactase and can enjoy a wider variety of dairy products.

Today, approximately 50% of Americans are estimated to be lactose intolerant. Symptoms usually emerge within 30 minutes to two hours of eating/drinking lactate-containing foods/beverages and may include:

  • Nausea
  • gas
  • Diarrhea

 medicines containing lactate and products containing milk or dairy products.

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