The polyG diseases: a new disease entity.

Abstract

Recently, inspired by the similar clinical and pathological features shared with fragile X-associated tremor/ataxia syndrome (FXTAS), abnormal expansion of CGG repeats in the 5' untranslated region has been found in neuronal intranuclear inclusion disease (NIID), oculopharyngeal myopathy with leukoencephalopathy (OPML), and oculopharyngodistal myopathy (OPDMs). Although the upstream open reading frame has not been elucidated in OPML and OPDMs, polyglycine (polyG) translated by expanded CGG repeats is reported to be as a primary pathogenesis in FXTAS and NIID. Collectively, these findings indicate a new disease entity, the polyG diseases. In this review, we state the common clinical manifestations, pathological features, mechanisms, and potential therapies in these diseases, and provide preliminary opinions about future research in polyG diseases.

• Authors: Tongling Liufu, Yilei Zheng, Jiaxi Yu, Yun Yuan, Zhaoxia Wang, Jianwen Deng, Daojun Hong
• Journal: Acta neuropathologica communications (Acta Neuropathol Commun) Vol. 10 Issue 1 Pg. 79 (05 31 2022) ISSN: 2051-5960 [Electronic] England
• PMID: 35642014 (Publication Type: Journal Article, Review, Research Support, Non-U.S. Gov't)
• Copyright: © 2022. The Author(s).

Chemical References

• Peptides
• Fragile X Mental Retardation Protein
• polyglycine

Topics

• Ataxia (complications)
• Fragile X Mental Retardation Protein
• Fragile X Syndrome (pathology)
• Humans
• Intranuclear Inclusion Bodies
• Muscular Dystrophies
• Neurodegenerative Diseases
• Peptides
• Tremor