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0 / 30 Fotos
BRCA gene mutations
- People who inherit BRCA (Breast cancer gene 1 and 2) gene mutations are more likely to develop breast and ovarian cancer.
© Shutterstock
1 / 30 Fotos
BRCA gene mutations
- Around 70% of women who inherit a BRCA1 or BRCA2 mutation will develop breast cancer, while those without the mutations have a 12% chance.
© Shutterstock
2 / 30 Fotos
BRCA gene mutations
- While breast cancer is the most prevalent one, these mutations can also increase the risk of developing other types of cancer, including prostate cancer in men, pancreatic cancer, fallopian tube cancer, acute myeloid leukemia, and peritoneal cancer.
© Shutterstock
3 / 30 Fotos
Cystic fibrosis
- Cystic fibrosis (CT) essentially leads to a buildup of mucus. The lungs are particularly affected, which leads to difficulty breathing and an increased risk of bacterial infections. It also blocks the release of digestive enzymes by the pancreas. Treatment has evolved, but CT is still a deadly condition, with a median lifespan of 40.
© Shutterstock
4 / 30 Fotos
Cystic fibrosis
- For the condition to develop, both parents must carry the defective gene. The gene in question is called the cystic fibrosis transmembrane conductance regulator (CFTR).
© Shutterstock
5 / 30 Fotos
Cystic fibrosis
- Testing can be done to determine if parents are carriers; however, there are about 1,700 different mutations that can lead to CT, and only the most common ones are detected through testing.
© Shutterstock
6 / 30 Fotos
Heart disease
- Heart disease prevention has a lot to do with diet and lifestyle, but genetic factors can also play a role. For instance, inherited sarcomere protein gene mutations can lead to a number of conditions.
© Shutterstock
7 / 30 Fotos
Heart disease
- These include hypertrophic cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy (ARVC). The gene mutation in question affects the heart's rhythm and can lead to a number of complications, including a heart attack.
© Shutterstock
8 / 30 Fotos
Achondrogenesis
- Achondrogenesis is a group of disorders that affect the development of cartilage and bone. The birth defects caused by achondrogenesis are so serious that most babies die before or shortly after birth.
© Shutterstock
9 / 30 Fotos
Achondrogenesis
- The condition is caused by the mutations of genes TRIP11, SLC26A2, and COL2A1, which are passed on to the child by the parents.
© Shutterstock
10 / 30 Fotos
Huntington's disease
- Huntington's disease (HD) leads to the deterioration of nerve cells. The neurodegenerative disease affects different areas of the body in different ways, including motor functions, mood, speech, etc.
© Shutterstock
11 / 30 Fotos
Huntington's disease
- If one parent carries the mutated gene, the child has a 50% chance of developing the condition. Because of this, it’s not uncommon for more than one person in the family to be affected by HD. Huntington's disease has no cure.
© Shutterstock
12 / 30 Fotos
Sickle cell disease
- Sickle cell disease is a group of inherited blood disorders that mostly affect people of African or Caribbean descent. The most common one is sickle cell anemia, which is caused by abnormal formations of the oxygen-carrying protein hemoglobin.
© Shutterstock
13 / 30 Fotos
Sickle cell disease
- Symptoms may include chronic pain, anemia, infections, vision loss, organ damage, and more. In some countries, including the US, infants are tested for sickle cell at birth.
© Shutterstock
14 / 30 Fotos
Muscular dystrophy
- Muscular dystrophy is the name given to a group of conditions that lead to progressive muscle deterioration. A spontaneous genetic mutation may cause it, but in most cases, the defective gene is inherited.
© Shutterstock
15 / 30 Fotos
Muscular dystrophy
- The gene DMD, which plays a role in making a protein called dystrophin, has been linked to Duchenne and Becker muscular dystrophies, which are among the most common forms of muscular dystrophy.
© Shutterstock
16 / 30 Fotos
Hemochromatosis
- Hemochromatosis is a metabolic disorder that causes an excess of iron to accumulate in the blood. It’s basically an iron overload, or the opposite of anemia. It’s passed on from parents to children.
© Shutterstock
17 / 30 Fotos
Hemochromatosis
- Symptoms may include fatigue, memory issues, low libido, abdominal pain, and heart palpitations. Mutations C282Y and H63D in the gene HFE are responsible for this condition.
© Shutterstock
18 / 30 Fotos
Alcoholism
- Alcoholism can have a number of underlying causes, but inherited genes can be partly to blame. While there isn’t one “alcoholism gene,” some genes can increase the risk of a person becoming addicted to alcohol. Genes such as ADH1B and ALDH2, that relate to alcohol metabolism, are an example.
© Shutterstock
19 / 30 Fotos
Alcoholism
- According to the American Addiction Centers, “a family history of alcohol use disorders may increase the risk of a genetic predisposition to developing an alcohol use disorder, with risks heightened for parent-child transmission.”
© Shutterstock
20 / 30 Fotos
Alcoholism
- Alcoholism also seems to be more prevalent in individuals with low serotonin levels and smaller amygdalae.
© Shutterstock
21 / 30 Fotos
Hemophilia
- The condition manifests through a lack of blood clotting proteins. This means that any type of bleeding lasts a lot longer than it would in someone without hemophilia. While this may be manageable as a small injury, it can be fatal when it comes to internal bleeding.
© Shutterstock
22 / 30 Fotos
Hemophilia
- The condition is caused by a defective gene on the X chromosome. As a result, the vast majority of people with hemophilia are male. Females have two X chromosomes, so if one of them carries the defective gene, they always have a “backup gene.” Males only have one X chromosome.
© Shutterstock
23 / 30 Fotos
Tay-Sachs disease
- Tay-Sachs disease leads to a buildup of fatty acids that damages nerve cells in the brain and spinal cord. It’s caused by a mutation of the HEXA gene, which plays a key role in the production of an enzyme called beta-hexosaminidase.
© Shutterstock
24 / 30 Fotos
Tay-Sachs disease
- Tay-Sachs disease mostly affects babies around the age of three to six months. The gene mutation seems to be most frequently present in Ashkenazi Jews, but people with French Canadian and Cajun backgrounds are also affected.
© Shutterstock
25 / 30 Fotos
Lesch-Nyhan syndrome
- Lesch-Nyhan syndrome (LNS) is an inherited metabolic disorder that affects mostly boys. It causes a number of issues, including poor muscle control and mental disability. Injuries resulting from self-harm and uncontrollable movement are among the symptoms. LNS is also known as "juvenile gout."
© Shutterstock
26 / 30 Fotos
Lesch-Nyhan syndrome
- LNS occurs when there is a lack of the enzyme known as hypoxanthine-guanine phosphoribosyltransferase (HPRT1) on the X chromosome. The mutations in the HPRT1 gene are inherited.
© Shutterstock
27 / 30 Fotos
Inherited colorectal cancer
- There are two types of colorectal cancer that can be inherited. These are hereditary nonpolyposis colorectal cancer (HNPCC) and familial adenomatous polyposis (FAP).
© Shutterstock
28 / 30 Fotos
Inherited colorectal cancer
- Both are autosomal dominant inherited conditions. This means that, if one parent has the mutated gene, the child has a 50% chance of inheriting it. Sources: (Ranker) (American Addiction Centers) (Mayo Clinic) (Cancer.gov) See also: The relationship between your genes and the food you eat
© Shutterstock
29 / 30 Fotos
© Shutterstock
0 / 30 Fotos
BRCA gene mutations
- People who inherit BRCA (Breast cancer gene 1 and 2) gene mutations are more likely to develop breast and ovarian cancer.
© Shutterstock
1 / 30 Fotos
BRCA gene mutations
- Around 70% of women who inherit a BRCA1 or BRCA2 mutation will develop breast cancer, while those without the mutations have a 12% chance.
© Shutterstock
2 / 30 Fotos
BRCA gene mutations
- While breast cancer is the most prevalent one, these mutations can also increase the risk of developing other types of cancer, including prostate cancer in men, pancreatic cancer, fallopian tube cancer, acute myeloid leukemia, and peritoneal cancer.
© Shutterstock
3 / 30 Fotos
Cystic fibrosis
- Cystic fibrosis (CT) essentially leads to a buildup of mucus. The lungs are particularly affected, which leads to difficulty breathing and an increased risk of bacterial infections. It also blocks the release of digestive enzymes by the pancreas. Treatment has evolved, but CT is still a deadly condition, with a median lifespan of 40.
© Shutterstock
4 / 30 Fotos
Cystic fibrosis
- For the condition to develop, both parents must carry the defective gene. The gene in question is called the cystic fibrosis transmembrane conductance regulator (CFTR).
© Shutterstock
5 / 30 Fotos
Cystic fibrosis
- Testing can be done to determine if parents are carriers; however, there are about 1,700 different mutations that can lead to CT, and only the most common ones are detected through testing.
© Shutterstock
6 / 30 Fotos
Heart disease
- Heart disease prevention has a lot to do with diet and lifestyle, but genetic factors can also play a role. For instance, inherited sarcomere protein gene mutations can lead to a number of conditions.
© Shutterstock
7 / 30 Fotos
Heart disease
- These include hypertrophic cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy (ARVC). The gene mutation in question affects the heart's rhythm and can lead to a number of complications, including a heart attack.
© Shutterstock
8 / 30 Fotos
Achondrogenesis
- Achondrogenesis is a group of disorders that affect the development of cartilage and bone. The birth defects caused by achondrogenesis are so serious that most babies die before or shortly after birth.
© Shutterstock
9 / 30 Fotos
Achondrogenesis
- The condition is caused by the mutations of genes TRIP11, SLC26A2, and COL2A1, which are passed on to the child by the parents.
© Shutterstock
10 / 30 Fotos
Huntington's disease
- Huntington's disease (HD) leads to the deterioration of nerve cells. The neurodegenerative disease affects different areas of the body in different ways, including motor functions, mood, speech, etc.
© Shutterstock
11 / 30 Fotos
Huntington's disease
- If one parent carries the mutated gene, the child has a 50% chance of developing the condition. Because of this, it’s not uncommon for more than one person in the family to be affected by HD. Huntington's disease has no cure.
© Shutterstock
12 / 30 Fotos
Sickle cell disease
- Sickle cell disease is a group of inherited blood disorders that mostly affect people of African or Caribbean descent. The most common one is sickle cell anemia, which is caused by abnormal formations of the oxygen-carrying protein hemoglobin.
© Shutterstock
13 / 30 Fotos
Sickle cell disease
- Symptoms may include chronic pain, anemia, infections, vision loss, organ damage, and more. In some countries, including the US, infants are tested for sickle cell at birth.
© Shutterstock
14 / 30 Fotos
Muscular dystrophy
- Muscular dystrophy is the name given to a group of conditions that lead to progressive muscle deterioration. A spontaneous genetic mutation may cause it, but in most cases, the defective gene is inherited.
© Shutterstock
15 / 30 Fotos
Muscular dystrophy
- The gene DMD, which plays a role in making a protein called dystrophin, has been linked to Duchenne and Becker muscular dystrophies, which are among the most common forms of muscular dystrophy.
© Shutterstock
16 / 30 Fotos
Hemochromatosis
- Hemochromatosis is a metabolic disorder that causes an excess of iron to accumulate in the blood. It’s basically an iron overload, or the opposite of anemia. It’s passed on from parents to children.
© Shutterstock
17 / 30 Fotos
Hemochromatosis
- Symptoms may include fatigue, memory issues, low libido, abdominal pain, and heart palpitations. Mutations C282Y and H63D in the gene HFE are responsible for this condition.
© Shutterstock
18 / 30 Fotos
Alcoholism
- Alcoholism can have a number of underlying causes, but inherited genes can be partly to blame. While there isn’t one “alcoholism gene,” some genes can increase the risk of a person becoming addicted to alcohol. Genes such as ADH1B and ALDH2, that relate to alcohol metabolism, are an example.
© Shutterstock
19 / 30 Fotos
Alcoholism
- According to the American Addiction Centers, “a family history of alcohol use disorders may increase the risk of a genetic predisposition to developing an alcohol use disorder, with risks heightened for parent-child transmission.”
© Shutterstock
20 / 30 Fotos
Alcoholism
- Alcoholism also seems to be more prevalent in individuals with low serotonin levels and smaller amygdalae.
© Shutterstock
21 / 30 Fotos
Hemophilia
- The condition manifests through a lack of blood clotting proteins. This means that any type of bleeding lasts a lot longer than it would in someone without hemophilia. While this may be manageable as a small injury, it can be fatal when it comes to internal bleeding.
© Shutterstock
22 / 30 Fotos
Hemophilia
- The condition is caused by a defective gene on the X chromosome. As a result, the vast majority of people with hemophilia are male. Females have two X chromosomes, so if one of them carries the defective gene, they always have a “backup gene.” Males only have one X chromosome.
© Shutterstock
23 / 30 Fotos
Tay-Sachs disease
- Tay-Sachs disease leads to a buildup of fatty acids that damages nerve cells in the brain and spinal cord. It’s caused by a mutation of the HEXA gene, which plays a key role in the production of an enzyme called beta-hexosaminidase.
© Shutterstock
24 / 30 Fotos
Tay-Sachs disease
- Tay-Sachs disease mostly affects babies around the age of three to six months. The gene mutation seems to be most frequently present in Ashkenazi Jews, but people with French Canadian and Cajun backgrounds are also affected.
© Shutterstock
25 / 30 Fotos
Lesch-Nyhan syndrome
- Lesch-Nyhan syndrome (LNS) is an inherited metabolic disorder that affects mostly boys. It causes a number of issues, including poor muscle control and mental disability. Injuries resulting from self-harm and uncontrollable movement are among the symptoms. LNS is also known as "juvenile gout."
© Shutterstock
26 / 30 Fotos
Lesch-Nyhan syndrome
- LNS occurs when there is a lack of the enzyme known as hypoxanthine-guanine phosphoribosyltransferase (HPRT1) on the X chromosome. The mutations in the HPRT1 gene are inherited.
© Shutterstock
27 / 30 Fotos
Inherited colorectal cancer
- There are two types of colorectal cancer that can be inherited. These are hereditary nonpolyposis colorectal cancer (HNPCC) and familial adenomatous polyposis (FAP).
© Shutterstock
28 / 30 Fotos
Inherited colorectal cancer
- Both are autosomal dominant inherited conditions. This means that, if one parent has the mutated gene, the child has a 50% chance of inheriting it. Sources: (Ranker) (American Addiction Centers) (Mayo Clinic) (Cancer.gov) See also: The relationship between your genes and the food you eat
© Shutterstock
29 / 30 Fotos
Genetic mutations that increase vulnerability to certain disorders
Some genetic abnormalities are hereditary
© Shutterstock
Some genes are passed on to us by our parents, and while most of them are perfectly fine, sometimes genes containing abnormalities are also passed on. These mutated genes can make us vulnerable to certain disorders, some of which can be very serious.
In this gallery, we look at some genetic mutations that can result in medical conditions. Click on to get to know them.
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