A crippling and life-threatening disease
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.
People who inherit BRCA (Breast cancer gene 1 and 2) gene mutations are more likely to develop breast and ovarian cancer.
Around 70% of women who inherit a BRCA1 or BRCA2 mutation will develop breast cancer, while those without the mutations have a 12% chance.
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.
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.
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).
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.
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.
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.
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.
The condition is caused by the mutations of genes TRIP11, SLC26A2, and COL2A1, which are passed on to the child by the parents.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.”
Alcoholism also seems to be more prevalent in individuals with low serotonin levels and smaller amygdalae.
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.
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.
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.
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.
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."
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.
There are two types of colorectal cancer that can be inherited. These are hereditary nonpolyposis colorectal cancer (HNPCC) and familial adenomatous polyposis (FAP).
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
Genetic mutations that increase vulnerability to certain disorders
Some genetic abnormalities are hereditary
HEALTH Genes
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.