Sunday, December 16, 2012

My spidey senses are tingling

For some reason this is very important - not sure on the why yet, but my gut is saying there is a connection somewhere in here to the link with ties, MTHFR and SIDS

http://www.medscape.org/viewarticle/738553_3

Studies - a work in progress


Human genetic selection for the MTHFR 677>T polymorphism: A leap in the dark


Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations.

Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients

The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia

mthfr and ADHD




Nitrous contra-indicated in c-section patient with mthfr
mthfr and nitrous
death of a child with an enzyme defect in the MTHFR gene after anaesthesia with nitrous oxide

Reversible nitrous oxide myelopathy and a polymorphism in the gene encoding 5,10-methylenetetrahydrofolate reductase

MTHFR and cleft palate




Nitrous oxide – laughing gas – is a widely used anaesthetic gas with many favourable but also some dangerous properties. Among the latter is the increase in homocysteine levels after nitrous oxide (N2O) exposure by inhibition of enzymes in the vitamin B12 pathway. Elevated homocysteine levels have been found to be an independent risk factor for ischemic events and are associated with an increased risk for perioperative myocardial ischemia. If a patient carries one or more loss-of-function mutations in enzymes of the methionine/homocysteine/folate pathway he is at an increased risk for hyperhomocysteinemia and if exposed to N2O might suffer severe, sometimes disastrous neurological damage. Recently, a case report in the New England Journal of Medicine reported the death of a child with an enzyme defect in the MTHFR gene after anaesthesia with nitrous oxide (NEJM 2003;349:45-50).

A MTHFR of a journey

We recently found out that all our us bar Zac have a MTHFR mutation. He only has low IgA.
This will be my blog where I research the heck out of this mutation and what it means for us as a family.