AI Article Synopsis
- Pontocerebellar hypoplasias (PCH) are a group of serious genetic disorders that affect brain development, leading to issues like a smaller cerebellum and various cognitive and motor difficulties.
- The study identified mutations in the tRNA-splicing endonuclease complex in two specific PCH subtypes (PCH2 and PCH4).
- This research suggests that problems with RNA processing may play a crucial role in the development of neurological disorders.
Article Abstract
Pontocerebellar hypoplasias (PCH) represent a group of neurodegenerative autosomal recessive disorders with prenatal onset, atrophy or hypoplasia of the cerebellum, hypoplasia of the ventral pons, microcephaly, variable neocortical atrophy and severe mental and motor impairments. In two subtypes, PCH2 and PCH4, we identified mutations in three of the four different subunits of the tRNA-splicing endonuclease complex. Our findings point to RNA processing as a new basic cellular impairment in neurological disorders.
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| http://dx.doi.org/10.1038/ng.204 | DOI Listing |
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