期刊
NEUROGENETICS
卷 9, 期 3, 页码 219-223出版社
SPRINGER
DOI: 10.1007/s10048-008-0128-2
关键词
large-conductance calcium-activated potassium channel alpha subunits; alternative splicing; cereblon protein; human; mental retardation; nonsyndromic; autosomal recessive; 2A protein; human; reverse transcriptase polymerase chain reaction
资金
- NINDS NIH HHS [R01 NS42422] Funding Source: Medline
A nonsense mutation (R419X) in the human cereblon gene [mutation (mut) CRBN] causes a mild type of autosomal recessive nonsyndromal mental retardation (ARNSMR). CRBN, a cytosolic protein, regulates the assembly and neuronal surface expression of large-conductance Ca2+-activated K+ channels (BKCa) in brain regions involved in memory and learning. Using the real-time quantitative polymerase chain reaction, we show that mut CRBN disturbs the development of adult brain BKCa isoforms. These changes are predicted to result in BKCa channels with a higher intracellular Ca2+ sensitivity, faster activation, and slower deactivation kinetics. Such alterations may contribute to cognitive impairments in patients with mild ARNSMR.
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