Trinucleotide Repeat Disorder

Trinucleotide repeat disorder refers to a condition where a person has several copies of a nucleotide triplet within a DNA. A person is said to have this condition when the cause of an illness is traced as the presence of several nucleotide triplet copies within a DNA. There are several disorders that are caused by this condition and they are called triplet repeat expansion disorders or trinucleotide repeat expansion disorders. In simple terms, these disorders are due to an increase in the trinucleotide repeats within a given gene which is usually more than the stable, normal, threshold. Every gene that is affected by this trinucleotide repeat has varying repeats’ number that constitutes a normal threshold as well as the number that causes the disease to manifest itself.

What are the categories of trinucleotide repeat disorder?

There are three categories of this disorder. The categorization of the disorders is based on the repeat type of trinucleotide. Triplet CAG is the most common repeat type. When this repeat occurs in a gene coding region, it codes the amino acid glutamine Q. As such, the disorders that are due to this repeat type are called polyglutamine (polyQ) disorders. The other category of these disorders does not involve CAG triplet or CAG triplet is not found in the gene coding region. Therefore, the disorders are called non-polyglutamine disorders. The final category can be seen as a subset of non-polyglutamine disorders. It comprises of the disorders that are associated with polyalanine tract expansion or the alterations of the genes that harbor polyalanine tract. Currently, there are 9 PA disorders that have been characterized properly in humans. Nevertheless, there are almost 500 proteins that encode genes and ones that harbor the residues of consecutive alanine and they range from 4 to 20 amino acids in their stretch.

How are these disorders diagnosed?

These disorders are very alike. Although they affect different body parts and their symptoms may vary, they are commonly considered as similar disorders by scientists because they share repeated codon which is what causes them. Polyglutamine disorders have common characteristics. Their major symptom is progressive nerve cells’ degeneration in some body parts. In every disorder, this degeneration starts by disrupting the normal function of a group of the nerve cells. After being affected for 10 to 20 years, most affected nerve cells will die. These disorders have symptoms that are similar to each other and they affect individuals at almost the same time. This is usually during their mid-life although cases of these disorders in childhood are also reported. Nevertheless, although these disorders are similar and they have almost the same symptoms, they should not be considered identical because they are not.

How is trinucleotide repeat disorder treated?

There is no treatment for majority of these disorders. However, some therapeutic and genetic advances in the management of these disorders have been made. Majority of these therapies are aimed at developing neuroprotective strategies. The focus is on delaying their onset as well as slowing down their progression. The neurodegenerative process starts long before the disorders manifest themselves. As such, it is important that laboratory monitoring methods are developed before clinical symptoms start appearing. Most advances in therapeutic treatments for these disorders are still going on. Therefore, it is expected that there will be clearer outcome in the future.

Why more research on these disorders should be conducted

These disorders affect both the body and mind of the patients. They are characterized by involuntary movements, abrupt jerking of the muscles as well as eventual dementia. Although there are common symptoms of these disorders in women and men of different ages, progressive decline in intellectual abilities can affect young people. It is therefore important to conduct further research on these disorders to find out how exactly the disorders can be treated or managed more effectively.

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Sources

http://web.stanford.edu/group/hopes/cgi-bin/hopes_test/trinucleotide-repeat-disorders/

http://themedicalbiochemistrypage.org/trinucleotiderepeatdisorders.php

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3178862/