Info about Genetic Diseases

Genetic diseases are surely one of the mostorder to succeed a useful analysis. Diseases like
dangerous factors for human?s health. Thesediabetes, Alzheimer, arthritis are due to multi
disorders are due to abnormalitites in genetic materialmutations.
(also known as genome) of humans. Genetic diseases3) Chromosomal Genetic Diseases: This type of
are categorized in four main types according togenetic diseases is due to changes in the structure
where does the disorder happens.and number of chromosomes. Besides, chromosomal
The four types of Genetic disorders are:disorders can be caused by segments and joins of
1) Single-gene/monogenic Genetic Diseases: In thisparts of chromosomes. We all know that
type of genetic diseases the abnormality happens inchromosomes are big DNA molecules composed from
one gene. To be more specific, the starting point is agenes. The human genome consists of 23 x 2
mutation in a single gene. This can lead to productionchromosomes. It is much easier to observer because,
of a defective protein that cannot carry out itssometimes, a chromosomal genetic disease can be
function. This is what causes the single gene disorder.detected with microscopic examination. The most
There are 6000 known single gene diseases, includingpopular chromosomal disorder is the Down
cystic fibrosis, Aicardi Syndrome etc.Syndrome, where there is a third copy of
2) Multifactorial/Polygonic Genetic Diseases: Thischromosome 21). In this disorder there is a third copy
category of genetic diseases is much moreof chromosome 21.
complicated. In this case mutations happen in many4) Mitochondrial Genetic Diseases: These are the
genes. The phenotype (the symptoms of therarest genetic diseases. As we know, mitochondrial
disease), in this case, is a result of mutationsDNA is a DNA molecule found in mitochondria, which
combined with a specific environment. Theseis an organelle necessary for cellular respiration. It
disorders are difficult to analyze, because scientistseems that mutations in the mitochondrial DNA can
should take into consideration a number of factors inalso cause undesirable disorders.