^ the author is my tethered cord surgeon btw, if you’re looking for an expert I highly recommend Petra Klinge at Rhode Island Hospital

#TetheredCord #EDS #MECFS #MEspine #LongCovid #POTS #MCAS

@verdantsquare

Interesting.

From the original research article*:

"...we inferred that the AluY insertion may mediate an alternative splicing (AS) event of the hominoid TBXT in an unusual way. This AluY element is not inserted in the vicinity of a splice site; instead, it is >500 bp from exon 6 of TBXT, the nearest coding exon (Fig. 1b). As such, it would not be expected, by itself, to lead to an AS event, as found for other individual intronic Alu elements near exon boundaries that directly affect splicing32,33,34. However, we noted the presence of another Alu element (AluSx1) in the reverse orientation in intron 5 of TBXT that is shared among all monkeys and apes (simians). Together, the AluY and AluSx1 elements form an exon-flanking inverted repeat pair (Fig. 1b). We therefore posited that during transcription, the hominoid-specific AluY element pairs with the simian-shared AluSx1 element to form a stem–loop structure in TBXT pre-mRNA and traps exon 6 in the loop (Fig. 1c). An inferred model of the RNA secondary structure supported the interaction between these two Alu elements35 (Extended Data Fig. 2). The secondary structure of the transcript may conjoin the splice donor and receptor site of exons 5 and 7, respectively, and promote the skipping of exon 6, thereby leading to a hominoid-specific and in-frame AS isoform: TBXTΔexon6 (Fig. 1c). "

* https://www.nature.com/articles/s41586-024-07095-8

#Genetics #AlternativeSplicing #SpinalCord #NeuralTubeDefects
#SpinaBifida #TetheredCord

What I had *asked* #Neurology to do in fact, was to look again at my scans to double check for #Chiari malformation/ #TetheredCord and/ or #CSFleak - all of which are plausible given my enormous range of symptoms.

Computer said no. My scans were not available to look at.

#MEcfs #NeuroME