Identification and characterization of a new alpha-synuclein isoform and its role in Lewy body diseases.
作者： Katrin Beyer , Montserrat Domingo-Sábat , José I. Lao , Cristina Carrato , Isidro Ferrer
DOI: 10.1007/S10048-007-0106-0
关键词: Alpha-synuclein 、 Cell biology 、 Exon 、 Alternative splicing 、 Dementia with Lewy bodies 、 Endocrinology 、 Gene isoform 、 Lewy body 、 Gene expression 、 Biology 、 Proteome 、 Internal medicine
摘要: Alternative splicing is an important mechanism to generate a large number of mRNAs, thus increasing proteome diversity and tissue specificity. Three transcript variants alpha-synuclein, neuronal protein mainly involved in synapses, have been described so far. Whereas alpha-synuclein 140 the whole main transcript, 112 126 are short proteins that result from in-frame deletions exons 3 5, respectively. Because aforesaid isoforms show differential expression changes Lewy body diseases (LBDs), present work, we searched for fourth isoform studied its levels LBD brains. By using isoform-specific primers, co-amplification direct sequencing, identified 98, which lacks 5. mRNA analyses non-neuronal revealed 98 brain-specific splice variant with varying different areas fetal adult brain. Additionally, by real-time semi-quantitative RT-PCR frontal cortices patients compared them those Alzheimer disease (AD) control subjects. Overexpression AD brains would indicate specific involvement pathogenesis these neurodegenerative disorders.
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