Progress toward understanding the genetic and biochemical mechanisms of inherited photoreceptor degenerations

Article Abstract:

Identification of more than 80 genes associated with human photoreceptor degenerations is presented. The topics that offer insights into the one-hit or constant risk model of photoreceptor death, topological patterns of photoreceptor degeneration, mutations in ubiquitously expressed splicing factors genes associated only with photoreceptor degeneration are focused upon.

Gene expression, Retinal degeneration, Photoreceptors, Genetic research

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RNA-mediated neuromuscular disorders

Article Abstract:

The RNA pathogenesis in myotonic dystrophy type 1 (DM1) and DM2 is discussed. Evidence is provided stating that similar mechanisms play a role in a growing number of dominant noncoding expansion disorders, including fragile X tremor ataxia syndrome (FXTAS), spinocerebellar ataxia type 8, SCA10, SCA12 and Huntington's disease-like 2 (HDL2).

Genetic aspects, Neuromuscular diseases, RNA, Fragile X syndrome, Spinocerebellar ataxia

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