A1298C Variant

A1298C – a mutation from adenine to cytosine at position 1298 within the gene. These variants lead to amino acid differences in the protein that reduces its ability to function.

1298:genes_MTHFR_baucom_institute

  • AA-normal homozygous
  • AC or CC – one or two variant copies
  • about 30% of the population
  • not associated with increased risk
  • associated with increased risk if found together with a 677 variant

Severe MTHFR deficiency:

  • Severe MTHFR deficiency is rare (about 50 cases worldwide) and caused by mutations resulting in 0-20% residual enzyme activity.
  • Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria. Hum Mutat 15 (3): 280-7
  • These patients exhibit:
  1. developmental delay,
  2. motor and gait dysfunction,
  3. seizures,
  4. neurological impairment and
  5. have extremely high levels of homocysteine in their plasma and urine as well as low to normal plasma methionine levels.

Epigenetic_mechanisms_MTHFR_methylationBottom line:  If one leads a lifestyle which is unhealthy (smoking, high stress, toxic exposures) and consumes an unhealthy diet (refined carbs, processed meats, saturated fats), having a heterozygous A1298C mutation may contribute to cardiovascular disease, depression, fibromyalgia and others.

Possible symptoms associated with A1298C MTHFR mutations:

  • hypertension
  • delayed speech
  • muscle pain
  • insomnia
  • irritable bowel syndrome
  • fibromyalgia
  • chronic fatigue syndrome
  • hand tremor
  • memory loss
  • headaches
  • brain fog

Possible signs associated with A1298C MTHFR Mutations:

  • elevated ammonia levels
  • decreased dopamine
  • decrease serotonin
  • decreased epinephrine and norepinephrine
  • decreased nitric oxide
  • elevated blood pressure
  • muscle tenderness
  • ulcers
  • pre-eclampsia

Possible conditions associated with A1298C MTHFR mutations:

  • fibromyalgia
  • chronic fatigue syndrome
  • autism
  • depression
  • insomnia
  • ADD/ADHD
  • irritable bowel syndrome
  • inflammatory bowel syndrome
  • erectile dysfunction
  • migraine
  • Raynaud’s
  • cancer
  • Alzheimer’s
  • Parkinson’s
  • recurrent miscarriages