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What is MTHFR A1298C Gene Mutation ?

  4 years, 6 months ago

By Helen Janneson Bense

A1298C single nucleotide polymorphism (SNP) affects the enzyme known as 5,10 MethyleneTetraHydroFolate Reductase (MTHFR). This polymorphism involves a down regulation of the MTHFR enzyme, responsible for the backwards reaction of the folate cycle, where 5-methylfolate (5MTHF) is converted into tetrahydrofolate (THF). This reaction is most important for the production of BH4 – tetrahydrobiopterin. Each turn of the folate cycle and conversion of 5MTHF to THF produces 1 molecule of BH4. In heterozygous and homozygous states, enzyme activity will be compromised by
approximately 30% and 70% respectively.

Functions of BH4
Cofactor for all three isotypes of nitric ... ..more

Adverse reactions to fluoroquinolone #antibiotics ( #Cipro #Ciprofloxacin #Levaquin #Levofloxacin #Avelox #Moxifloxacin and #Floxin #Ofloxacin ) can manifest in patients as a multi-symptom chronic illness that most resembles #fibromyalgia #chronic fatigue syndrome #CFS / #myalgic encephalopathy (ME) and/or an #autoimmune diseases. As is the case with those chronic multi-symptom illnesses, the symptoms of fluoroquinolone toxicity vary greatly from one individual to another. Though almost everyone who suffers from fluoroquinolone toxicity has some sort of musculoskeletal issues (fluoroquinolones have a black box warning about the risk of tendon rupture), #neuropathy and autonomic nervous system dysfunction, those broad categories of symptoms are where the ... ..more

There is little known about the A1298C MTHFR mutation. Or so it seems.
Research seems to ignore it almost completely while the C677T MTHFR mutation gets all the attention and glory.
For those who have the A1298C MTHFR mutation, this is frustrating.
Symptoms exist and doctors are saying there is no correlation between the MTHFR A1298C mutation and your symptoms – right?

I’d like to prove them wrong – at least for the symptoms which do correlate with the A1298C MTHFR mutation.

The MTHFR A1298C mutation may affect you if you are either:
--Homozygous A1298C MTHFR mutation
--Compound heterozgous A1298C + C677T ... ..more