Physiology 3140A Lecture Notes - Lecture 1: Nuclear Lamina, Lamin B2, Nuclear Pore
3 Jul 2017
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Nuclear structure: nucleolus, region for ribosome synthesis. Involved in cell response to stress: assembly of signal recognition particles, nuclear membrane, multiple pores around nucleus. Is continuous with er can see ribosomes on the membrane. Nuclear lamin: protein meshwork, mostly made up of lamins and lamin associated proteins, connect to inner nuclear membrane, connect to chromatin, this helps stabilize dna in the nucleus, for structure but also for signalling. Integrins (cell-ecm interaction: faster communication, allows the cell to respond in a transcriptional way much more readily. Emery-dreifuss muscular dystrophy: mutations in linc genes or in lamin (multigenic disorger, recall: high expression of lamin a in skeletal/cardiac muscle, results in muscle degeneration, weakness and atrophy. Dunnigan-type familial partial lipodystrophy: missense mutation in lmna gene, results in adipose tissue redistribution, insulin resistant diabetes mellitus. Lmna deletion: early onset aging, fragile skin, atherosclerosis, short stature, loss of hair, people die i(cid:374) their late tee(cid:374)s/earl(cid:455) 20"s, no cognitive defects - (lmna not expressed in neurons)
