The most common genetic diseases. How are they made?

Contents

Huntington’s disease
Down syndrome
Cystic fibrosis
Klinefelter’s syndrome
Patau’s syndrome
Edwards syndrome
Turner syndrome
Williams syndrome
Hemophilia
Muscular dystrophy
Anemia sierpowata (niedokrwistość sierpowatokrwinkowa)

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Proven content

Though genetic diseases are considered rare, they affect millions of people around the world each year.

There are many theories about the emergence of health and life-threatening genetic mutations. Most of them take into account the role of environmental factors in the development of the disease. Genes are also more and more often seen as the causes of mental disorders or the genesis of addictions. Unfortunately, despite many studies, we are still unable to prevent dangerous mutations.

What we do know is that genetic defects arise when a person’s genetic material (DNA or genome) changes randomly and can be divided into four types, which in turn affect the type of disease. These are: single gene mutations (point mutations), mutations of many genes at once, changes or missing chromosomes and changes in the genetic material of mitochondria. These are the most common genetic diseases that affect each of the types of undesirable mutations mentioned.

I waited 15 years for the diagnosis. I am one of 50 people in Poland with Pompe disease

Huntington’s disease

It is a genetic disease affecting the central nervous system, resulting in a gradual loss of body control, convulsions and, consequently, deterioration of the patient’s mental state, leading to dementia, problems with speech and memory, and depression. Huntington’s chorea occurs among Poles with a frequency of 1 in 15 people. It is caused by a mutation in the gene encoding the huntingtin protein. Its excessive accumulation in nerve cells leads to their degeneration and death, as a consequence of which mitochondrial dysfunction and changes in the cerebral cortex occur.

Down syndrome

This genetic disease is caused by an extra gene copy (trisomy) in the 21st pair of chromosomes. On average, one child in every 50 births will have Down’s syndrome. These statistics increase with the age of the mother, reaching as much as one in 40 newborns in women over XNUMX.

Down syndrome is characterized by the characteristic mongoid facial features, incoordination, short stature, furrows on the hand and mental retardation combined with a cheerful disposition. People with Down’s syndrome often die of heart and lung defects, statistically living up to 40-50 years of age.

Cystic fibrosis

It is probably one of the most common genetic diseases in the world. Scientifically, it is caused by the recessive alleles of the 7th chromosome coding for the protein that control the transport of ions to the cytoplasmic membrane in the body’s cells. This condition translates into the formation of a large amount of mucus in the respiratory system, which makes breathing difficult and promotes the formation of respiratory infections. In 2/3 of patients, cystic fibrosis is also accompanied by high liver failure. This mutation also causes serious changes in the digestive system, contributing to damage to the pancreas. Cystic fibrosis is most common in Europeans and Ashkenazi Jews.

The test that can diagnose cystic fibrosis is a genetic test. They can be performed at Medgen Medical Center, which has prepared a mail-order genetic test for the identification of the F508del mutation with the possibility of detecting about 80 other mutations in the tested region of the CFTR gene.

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Klinefelter’s syndrome

It is a chromosomal aberration which, unlike the Turner syndrome, consists in the presence of a supernumerary X chromosome next to the XY pair. It occurs in one in about 500 to 1000 men and, if untreated, contributes to infertility, elongation of the limbs (female body build), and reduction of secondary sexual development. Libido is also lowered, there are problems with erection.

Patau’s syndrome

This syndrome, like Down syndrome, is caused by an extra gene (trisomy), but in the 13th pair of chromosomes. Unfortunately, the effects of this genetic disease are extremely dangerous, with a cleft lip, mental retardation or non-fused interatrial opening at the forefront. Although this defect is rare (0,02% of newborns), the majority of affected children die in the first year of life due to non-removable birth defects.

Edwards syndrome

It arises as a result of the third chromosome in the 18th pair of chromosomes. Unfortunately, it is such a serious genetic disease that it almost always leads to the death of the child in the first months of life. According to research, almost 95 percent. affected fetuses undergo a miscarriage. Edwards syndrome is characterized by severe internal maldevelopment, including non-union of the atrial openings in the heart. It affects an average of one in 8 thousand. kids.

Turner syndrome

This syndrome derives its origin from a chromosomal defect, which consists in the presence of only one X chromosome instead of a pair of sex chromosomes. Unlike the Down syndrome, it is more common in younger mothers, on average in one in three thousand. pregnancies. People with one X chromosome have a shorter height, are sterile, have pigmented lesions on their bodies – there is also a lack of pubic hair and undeveloped breasts.

Williams syndrome

This genetic disease is caused by large deficiencies in the region of chromosome 7. Children with Williams syndrome have a characteristic facial appearance, commonly referred to as “elf face”. People with this disease do not have large intellectual limitations in relation to the rest of the population, but they have large linguistic and phonetic problems in the field of semantics and phonology. This condition is sometimes referred to as “cocktail speech” and is associated with a rich vocabulary with simultaneous problems in phonetic processing.

Hemophilia

Hemophilia is a recessive genetic disease characterized by a lack of blood clotting. It manifests itself with subcutaneous bleeding, haematuria and difficulties with the healing of larger wounds or with blood transfusion. A defective gene located on the X chromosome means that this disease can be hereditary transmitted to a man if one of the parents is sick, while in order to be passed on to a woman, both parents must have a blood coagulation defect in their genotype.

Muscular dystrophy

Muscular dystrophy is caused by pathological changes in the muscle fibers caused by mutations in a single gene on the X chromosome. Duchenne muscular dystrophy is characterized by early-stage muscle wasting, scoliosis, atrophy, and difficulty breathing. In children with this genetic disease, the so-called “Duckling gait”, ie inability to maintain an upright position on one’s own. Treatment is carried out through intense movement exercises.

Anemia sierpowata (niedokrwistość sierpowatokrwinkowa)

This genetic disease is congenital anemia caused by a defective structure of hemoglobin. The disease is inherited autosomal and is non-sex-linked, most common in the African region and generally in mulattoes and African Americans. This type of anemia can be identified by the sickle shape of red blood cells, which is caused by a lack of oxygen in the blood. The changed shape of erythrocytes, on the other hand, contributes to their more frequent breakdown or clumping, which causes microclots inside the body. The consequence of sickle cell anemia is pale skin color, high heart rate (tachycardia), frequent infections, ulcers and trouble growing. Currently, sickle cell anemia is mainly treated by blood transfusion.

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