Talk:Atrophin 1

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This article did not have much information in the introduction so I added a few more sentences summarizing its function, where it can be found, and what gene it is encoded by. I also moved the information provided under different headings so it was more organized. I added the subheading Function. There is not much to be found as a definite function, but it is agreed that the main function would be to act as a transcriptional corepressor. I added more information on how Atrophin-1 mutates and and the main disease that it is associated with (DRPLA). The edits I made are bolded.

The function of Atrophin-1 has not yet been determined.[4] There is evidence provided by studies of Atrophin-1 in animals to suggest it acts as a transcriptional co-repressor.[4] Atrophin-1 can be found in the nuclear and cytoplasmic compartments of neurons.[4] Contents [hide] 1 Function 2 Clinical significance 3 Interactions 4 References 5 Further reading 6 External links Function[edit | edit source] The function of Atrophin-1 have not been defined yet. It is widely hypothesized that Atrophin-1 functions as a transcriptional co-repressor.[5] A transcriptional co-repressor is a protein that indirectly suppresses the activity of specific genes by interacting with DNA-binding proteins.[5]

Clinical significance[edit | edit source] The ATN1 gene has a segment of DNA called the CAG trinucleotide repeat.[5] It is made up of cytosine, adenine, and guanine, and repeats multiple times.[5] The number of CAG repeats in the ATN1 gene in a healthy person will range from six to thirty-five[5] Studies conducted have supported the idea that mutated Atrophin-1 gathers in neurons and disrupts functions of cells.[5] Mutations in ATN1 are associated with a form of trinucleotide repeat disorder known as "dentatorubral-pallidoluysian atrophy" or "dentatorubropallidoluysian atrophy".The disorder is related to the expansion of a trinucleotide repeat within this gene. The symptoms of this disorder can credited to the significant reduction of brain and spinal tissue observed in those afflicted with "dentatorubral-pallidoluysian atrophy".[6] There are juvenille-onset and late adult-onsets disorders of "dentatorubral-pallidoluysian atrophy" that have differing degrees of severity in certain symptoms.[6]Ewells2013 (talk) 18:05, 12 March 2017 (UTC)[reply]