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Genetic disorders in humans

Our genes play a major role in our health. Environmental factors and the immune system are the other factors that matter when it comes to diseases. Genetic disorders can be: single-gene or multi-factorial, depending on the gene or genes involved in disorder. There are also changes that happen on chromosomes, causing chromosomal genetic disorders and those which affect mitochondria, provoking mitochondrial genetic problems.

Genes are associated with different proteins, and every protein is responsible for various functions in the body. If there is a problem with the genes, it translates to weakening or dysfunction of protein role in the body, which causes genetic disorder.

Types of Genetic Disorders

Monogenic, mendelian or single-gene genetic disorder is caused by the mutation of DNA (deoxyribonucleic acid). Mutation in the gene that aids the body to perform certain functions usually results in a dysfunctional body. Huntington’s disease, cystic fibrosis, sickle cell anemia, hereditary hemochromatosis and Marfan syndrome are some of the known mendelian genetic disorders.

Multi-factorial genetic disorders are also called polygenic or complex. These disorders affect the human health only when there are combinations of hereditary and environmental factors, and because of that multi-factorial disorders are very hard to be studied and analyzed. As well known examples of these disorders, doctors usually mention: diabetes, obesity, hypertension (high blood pressure), heart-related problems, arthritis, Alzheimer’s disease or even different cancers (breast cancer).

These, single-gene and multi-factorial genetic disorders happen on the chromosomes and therefore they are known as chromosomal genetic disorders. However, changes can also happen on the non-chromosomal DNA, more precisely on the mitochondrial DNA. Genetic disorders that have happened on mitochondria are called mitochondrial genetic disorders.

Some Well-Known Genetic Disorders

Acrocephaly, adenomatous polyposis of the colon, disorders of the adrenal gland, adrenogenital syndrome, ALA dehydratase or ALA-D porphyrias, ALS, Alzheimer disease, anemias such as hereditary sideroblastic, sex-linked hypochromic sideroblastic or familial splenic anemias and Angelman syndrome are all known genetic disorders.

There are also bleeding disorders, problems related to bones, like brittle bone disease or bone marrow disease, then Bourneville disease and various brain diseases that might be caused by genetic problems.

Celiac disease, Charcot-Marie tooth disease, color blindness, congenital osteosclerosis, cystic fibrosis, Cri du chat D 5, and cancers like breast, bladder or colorectal can also be considered as genetic disorders. Carboxylase deficiency, Cooley’s anemia and cerebral sclerosis are also provoked by the mutation of the DNA.

Down syndrome, hemophilia, neurofibromatosis, phenylketonuria, Turner and Prader-Willi syndromes, as well as sickle-cell and Tay-Sachs diseases are all known to be linked to mutations of the human DNA.

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