Trinucleotide repeat disorder: Difference between revisions
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{{Infobox medical condition | |||
| name = Trinucleotide repeat disorder | |||
| synonyms = Triplet repeat expansion disorder | |||
| field = [[Medical genetics]] | |||
| symptoms = Varies by specific disorder; may include [[neurological]] symptoms, [[muscle weakness]], [[cognitive decline]], etc. | |||
| onset = Varies by specific disorder | |||
| duration = Chronic | |||
| causes = [[Genetic mutation]] involving expansion of [[trinucleotide repeat]]s | |||
| risks = [[Family history]] of the disorder | |||
| diagnosis = [[Genetic testing]], [[clinical evaluation]] | |||
| differential = Other [[genetic disorders]], [[neurological disorders]] | |||
| treatment = Symptomatic treatment, [[genetic counseling]] | |||
| prognosis = Varies by specific disorder | |||
| frequency = Varies by specific disorder | |||
}} | |||
'''Trinucleotide repeat disorder'''‚Äè‚Äé, also known as '''trinucleotide repeat expansion disorder''' or '''triplet repeat expansion disorder''', is a set of genetic disorders caused by trinucleotide repeat expansion, a kind of mutation where trinucleotide sequences in certain genes exceed the normal, stable threshold, which differs per gene. | |||
== Overview == | == Overview == | ||
[[Trinucleotide repeat expansion]] is a mutation that results in the expansion of a sequence of three nucleotides, or a trinucleotide, in a gene. This expansion can lead to a variety of genetic disorders, collectively known as trinucleotide repeat disorders. The severity of these disorders often correlates with the length of the expanded repeat, with longer repeats generally leading to more severe symptoms. | [[Trinucleotide repeat expansion]] is a mutation that results in the expansion of a sequence of three nucleotides, or a trinucleotide, in a gene. This expansion can lead to a variety of genetic disorders, collectively known as trinucleotide repeat disorders. The severity of these disorders often correlates with the length of the expanded repeat, with longer repeats generally leading to more severe symptoms. | ||
== Types of Trinucleotide Repeat Disorders == | == Types of Trinucleotide Repeat Disorders == | ||
There are several types of trinucleotide repeat disorders, each caused by the expansion of a different trinucleotide sequence in a different gene. These include: | There are several types of trinucleotide repeat disorders, each caused by the expansion of a different trinucleotide sequence in a different gene. These include: | ||
* [[Huntington's disease]]: Caused by the expansion of the CAG repeat in the HTT gene. | * [[Huntington's disease]]: Caused by the expansion of the CAG repeat in the HTT gene. | ||
* [[Fragile X syndrome]]: Caused by the expansion of the CGG repeat in the FMR1 gene. | * [[Fragile X syndrome]]: Caused by the expansion of the CGG repeat in the FMR1 gene. | ||
* [[Myotonic dystrophy]]: Caused by the expansion of the CTG repeat in the DMPK gene. | * [[Myotonic dystrophy]]: Caused by the expansion of the CTG repeat in the DMPK gene. | ||
* [[Friedreich's ataxia]]: Caused by the expansion of the GAA repeat in the FXN gene. | * [[Friedreich's ataxia]]: Caused by the expansion of the GAA repeat in the FXN gene. | ||
== Pathogenesis == | == Pathogenesis == | ||
The pathogenesis of trinucleotide repeat disorders is complex and not fully understood. However, it is known that the expanded trinucleotide repeat can interfere with the normal function of the affected gene, leading to a variety of symptoms. In some cases, the expanded repeat can lead to the production of a toxic protein that damages cells. | The pathogenesis of trinucleotide repeat disorders is complex and not fully understood. However, it is known that the expanded trinucleotide repeat can interfere with the normal function of the affected gene, leading to a variety of symptoms. In some cases, the expanded repeat can lead to the production of a toxic protein that damages cells. | ||
== Diagnosis and Treatment == | == Diagnosis and Treatment == | ||
Diagnosis of trinucleotide repeat disorders typically involves genetic testing to identify the expanded trinucleotide repeat. Treatment is usually symptomatic, focusing on managing the symptoms of the disorder rather than curing the underlying genetic defect. | Diagnosis of trinucleotide repeat disorders typically involves genetic testing to identify the expanded trinucleotide repeat. Treatment is usually symptomatic, focusing on managing the symptoms of the disorder rather than curing the underlying genetic defect. | ||
== See Also == | == See Also == | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[Mutation]] | * [[Mutation]] | ||
* [[Nucleotide]] | * [[Nucleotide]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Mutation]] | [[Category:Mutation]] | ||
{{genetics-stub}} | {{genetics-stub}} | ||
{{No image}} | {{No image}} | ||
Latest revision as of 23:29, 3 April 2025
| Trinucleotide repeat disorder | |
|---|---|
| Synonyms | Triplet repeat expansion disorder |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Varies by specific disorder; may include neurological symptoms, muscle weakness, cognitive decline, etc. |
| Complications | N/A |
| Onset | Varies by specific disorder |
| Duration | Chronic |
| Types | N/A |
| Causes | Genetic mutation involving expansion of trinucleotide repeats |
| Risks | Family history of the disorder |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | Other genetic disorders, neurological disorders |
| Prevention | N/A |
| Treatment | Symptomatic treatment, genetic counseling |
| Medication | N/A |
| Prognosis | Varies by specific disorder |
| Frequency | Varies by specific disorder |
| Deaths | N/A |
Trinucleotide repeat disorder‚Äè‚Äé, also known as trinucleotide repeat expansion disorder or triplet repeat expansion disorder, is a set of genetic disorders caused by trinucleotide repeat expansion, a kind of mutation where trinucleotide sequences in certain genes exceed the normal, stable threshold, which differs per gene.
Overview[edit]
Trinucleotide repeat expansion is a mutation that results in the expansion of a sequence of three nucleotides, or a trinucleotide, in a gene. This expansion can lead to a variety of genetic disorders, collectively known as trinucleotide repeat disorders. The severity of these disorders often correlates with the length of the expanded repeat, with longer repeats generally leading to more severe symptoms.
Types of Trinucleotide Repeat Disorders[edit]
There are several types of trinucleotide repeat disorders, each caused by the expansion of a different trinucleotide sequence in a different gene. These include:
- Huntington's disease: Caused by the expansion of the CAG repeat in the HTT gene.
- Fragile X syndrome: Caused by the expansion of the CGG repeat in the FMR1 gene.
- Myotonic dystrophy: Caused by the expansion of the CTG repeat in the DMPK gene.
- Friedreich's ataxia: Caused by the expansion of the GAA repeat in the FXN gene.
Pathogenesis[edit]
The pathogenesis of trinucleotide repeat disorders is complex and not fully understood. However, it is known that the expanded trinucleotide repeat can interfere with the normal function of the affected gene, leading to a variety of symptoms. In some cases, the expanded repeat can lead to the production of a toxic protein that damages cells.
Diagnosis and Treatment[edit]
Diagnosis of trinucleotide repeat disorders typically involves genetic testing to identify the expanded trinucleotide repeat. Treatment is usually symptomatic, focusing on managing the symptoms of the disorder rather than curing the underlying genetic defect.
