The role of nucleotide repeats in the development ofSpinocerebellar ataxia and Friedrich ataxia

Ataxia is a type of muscle non-coordination that is not associated withsymptoms of muscle weakness and can be caused by changes in certain genes.These disorders are considered neurogenetic diseases. Spinocerebellar ataxia isan autosomal dominant disease resulting from the proliferation of tri-replicateCAG in the ATXN۱ gene. In normal people, the number of repetitions isbetween ۶ and ۳۸, but in patients with these recurrences, it reaches ۳۹ to ۸۰repetitions. Of course, repetitions between ۳۶ and ۳۸ can be considered premutations.People with this recurrence are normal, but may produce gameteswith extended recurrences and have sick children. Friedrich's ataxia is anautosomal recessive inherited disease, so only if both parents are carriers of thedisease can a child be born. The FRDA or FXN gene on chromosome ۹q۱۳ isknown to be associated with this disease. This gene is mutated in patients withFriedrich's ataxia, which in most cases is the GAA nucleotide triad extensionin intron number one, which produces a malfunctioning protein.In this study, searches in electronic and scientific databases of PubMed,Medline, Google Scholar, Scopus, OMIM, and ISI were performed and validarticles related to the subject were searched using the keywords Ataxia andneurogenetics. Certainly, using neurogenetics can be more accurate in findingthe root causes of other neurological diseases that are of genetic origin, whichis the basis for progress in the discussion of neurogenetic diagnosis.Investigation of nucleotide repeats in ATXN۱ and FRDA genes are essentialand effective in identifying Spinocerebellar ataxia and Friedrich ataxias, whichby further study and research on these genes can be used as molecular markersin the early diagnosis of these two diseases.

کلیدواژه ها:

Ataxia ، Neurogenetics ، Spinocerebellar ataxia ، Friedrich Ataxia