1 µg of plasmid DNA were efficienctly transfected into PC-12 [PC-12] cells using 3.5 µL NeuroMag transfection reagent.
This paper shows the high efficiency of NeuroMag transfection reagent from OZ Biosciences to transfect DNA into cell lines .article reference: Hum Mol Genet. 2013 May 31.
A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome.Abstract
Snyder-Robinson syndrome (SRS, OMIM: 309583) is an X-linked intellectual disability (XLID) syndrome,
characterized by a collection of clinical features including facial
asymmetry, marfanoid habitus, hypertonia, osteoporosis and unsteady
gait. It is caused by a significant decrease or loss of spermine synthase (SMS) activity. Here, we report a new missense mutation, p.Y328C (c.1084A>G), in SMS in a family with XLID. The affected males available for evaluation had mild ID, speech and global delay, an asthenic build, short stature with long fingers and mild kyphosis. The spermine/spermidine
ratio in lymphoblasts was 0.53, significantly reduced compared with
normal (1.87 average). Activity analysis of SMS in the index patient
failed to detect any activity above background. In silico modeling
demonstrated that the Y328C mutation
has a significant effect on SMS stability, resulting in decreased
folding free energy and larger structural fluctuations compared with
those of wild-type SMS. The loss of activity was attributed to the
increase in conformational dynamics in the mutant which affects the
active site geometry, rather than preventing dimer formation. Taken
together, the biochemical and in silico studies confirm the p.Y328C mutation in SMS is responsible for the patients having a mild form of SRS and reveal yet another molecular mechanism resulting in a non-functional SMS causing SRS.
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