MTHFR Gene

the MTHFR gene has two common polymorphisms that are often discussed:
C677T (rs1801133): This is a single nucleotide polymorphism (SNP) where cytosine (C) is replaced by
thymine (T) at position 677 in the MTHFR gene.
A1298C (rs1801131): Another SNP where adenine (A) is replaced by cytosine (C) at position 1298.
These polymorphisms can affect the activity of the MTHFR enzyme, which plays a role in folate
metabolism. Variations in the MTHFR gene have been associated with altered levels of folate in the body
and may contribute to various health conditions. The impact of these polymorphisms is often discussed
in the context of conditions like neural tube defects, cardiovascular diseases, and other health issues
related to folate metabolism. However, it's essential to note that the relationship between MTHFR
polymorphisms and health outcomes is complex and influenced by various factors.

Gene sequence

The MTHFR gene sequences for the two common polymorphisms are as follows:

C677T (rs1801133): The normal sequence is AGGAGGTGCGGTGAGAGG, and the polymorphic sequence
(C677T) is AGGAGGTGTGGTGAGAGG.

A1298C (rs1801131): The normal sequence is CACCTTGGCTCTGACCTC, and the polymorphic sequence
(A1298C) is CACCTTCGCTCTGACCTC.

These sequences represent the specific locations in the MTHFR gene where the polymorphisms occur.
The changes in these sequences can impact the function of the MTHFR enzyme, potentially affecting
folate metabolism and contributing to health-related outcomes.

Protein

The MTHFR gene, the associated protein is methylenetetrahydrofolate reductase, commonly referred to
as MTHFR. The MTHFR enzyme plays a crucial role in folate metabolism, converting 5,10-
methylenetetrahydrofolate to 5-methyltetrahydrofolate. Polymorphisms in the MTHFR gene, particularly
the C677T and A1298C variants, can lead to decreased enzyme activity, potentially affecting folate levels
in the body.
Defective protein sequence
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The defective protein sequences resulting from MTHFR gene polymorphisms are as follows:

C677T (rs1801133): This polymorphism results in an amino acid change from alanine to valine at position
222 in the MTHFR protein. The defective sequence is: ALAVTVTLGRTY.

A1298C (rs1801131): This polymorphism leads to an amino acid change from glutamine to alanine at
position 429 in the MTHFR protein. The defective sequence is: GAAGAAAATGAL.

These variations in the protein sequence can affect the enzymatic activity of MTHFR, potentially
influencing folate metabolism in individuals with these polymorphisms.
MTHFR protein sequence
The full amino acid sequence of the MTHFR (methylenetetrahydrofolate reductase) protein is quite
lengthy. Here is a truncated version of the first few amino acids:

MATRPEPKAAAATQEAVPGGEPGTAEVTFGKGRESKAGAKNIFVNVVGAQWASVRKLSKKLYLTAIGSLLLGNLISEAYRK
IKDVAIKNVPFWKPEEETGKVVDLTSKELAEKNKNLVIMTSAAHGHFGYPGTNAAIRSLKPNDNIFLIRSDTDLAQDVEEF
ERKKYLKNSDLVEQFREDFRDRDKLKKLDSCNVLITRLKDTKYSLFNPIKHTLTLFIDTDLKGYKKFMEALCPEVLKVTNFM
DESSIFISQYVNKDKEMTFETMKKIEDLNLKNFVMVCDSYQAKDASVYDLLNYKELFEYDLHPFLKYSNITTTVSIFDGKQ
PFLCSTENIPFLWKRLIKLKFSLNEEVTITPWFNEELKDDWSVHFAKELIYAMNISDVRFLRERLPTIYKT
Disease caused by this gene defection

Polymorphisms in the MTHFR gene, particularly the C677T and A1298C variants, have been associated
with various health conditions. However, it's important to note that the relationship between MTHFR
gene polymorphisms and diseases is complex, and not everyone with these polymorphisms will develop
associated health issues. Some conditions that have been linked to MTHFR gene defects include:

Neural Tube Defects (NTDs): MTHFR polymorphisms have been studied in relation to an increased risk of
neural tube defects in newborns.

Cardiovascular Diseases: There is some research suggesting an association between MTHFR

polymorphisms and an increased risk of cardiovascular diseases, including coronary artery disease and
stroke.

Pregnancy Complications: MTHFR variants have been investigated in relation to recurrent pregnancy loss
and preeclampsia.

Causes of MTHFR gene polymorphism

Spontaneous Errors: Mistakes during DNA replication or repair processes can lead to spontaneous
mutations.
Environmental Factors: Exposure to certain environmental elements, such as radiation, chemicals, or
pollutants, can induce mutations.
UV Radiation: Ultraviolet (UV) radiation from the sun can cause DNA damage and mutations.
Chemical Exposure: Exposure to certain chemicals, like those found in tobacco smoke or industrial
pollutants, can increase the risk of mutations.
Inherited Mutations: Mutations can be passed down from parents to offspring through genetic
inheritance.
Biological Processes: Some mutations arise during natural biological processes, such as cell division or
meiosis.
Viral Infections: Certain viruses can integrate their genetic material into a host's DNA, potentially causing
mutations.

Mutations in the MTHFR gene can lead to various health issues, and the most common type of
mutation associated with this gene is a single nucleotide polymorphism (SNP)..
Conclusion
In conclusion, MTHFR polymorphism may be
beneficial to guide and optimize individualized
medication for migraine treatments. In the
future, the relationship between MTHFR
polymorphism and migraine treatment can be
further studied in larger sample populations
with a well-controlled experimental design,
especially for vitamin B supplementation.
Reference

Alexander EK, Pearce EN, Brent GA, Brown RS, Chen H,

Dosiou C, et al. (2017) Guidelines of the American
Thyroid Association for the Diagnosis and Management
of Thyroid Disease During Pregnancy and the
Postpartum. Thyroid. 2017;27:315-89.
Wells RE, O'Connell N, Pierce CR, Estave P, Penzien DB,
Loder E, et al(2020). Effectiveness of mindfulness
meditation vs headache education for adults with
migraine: a randomized clinical trial. JAMA Intern Med.
181:317–28. doi: 10.1001/jamainternmed.2020.7090
Meng X, Zheng J-l, Sun M-l, Lai H-y, Wang B-j, Yao J, et al.
(2022) Association between MTHFR (677C>T and
1298A>C) polymorphisms and psychiatric disorder: A
meta-analysis. PLoS ONE 17(7): e0271170.
doi:10.1371/journal.pone.0271170

X. Liu, D. Zhang, Y. Liu et al., “Dose-response association

between physical activity and incident
hypertension,” Hypertension, vol. 69, no. 5, pp. 813–820,
2017.
S. Kang, X. Zhao, L. Liu, W. Wu, and D. Zhang, “Association
of the C677T polymorphism in the MTHFR gene with
hemorrhagic stroke: a meta-analysis,” Genetic Testing
and Molecular Biomarkers, vol. 17, no. 5, pp. 412–417,
2013.
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Importance of hyperhomocysteineimia due to mthfr gene mutation

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Hyperhomocysteinemia due to MTHFR gene mutation is significant because it can increase the risk of
various health problems, including cardiovascular disease, blood clots, stroke, and pregnancy
complications such as miscarriages and neural tube defects. MTHFR gene mutation affects the body's
ability to metabolize homocysteine, leading to elevated levels in the blood. Managing this condition
through proper supplementation and lifestyle changes is crucial for reducing associated health risks.

User
I want a importance

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The importance of hyperhomocysteinemia due to MTHFR gene mutation lies in its association with
increased risks of cardiovascular disease, blood clots, stroke, and pregnancy complications. Detecting
and managing this condition early can significantly reduce these health risks, emphasizing the
importance of genetic testing and personalized medical intervention.

User
And conclusion

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In conclusion, hyperhomocysteinemia resulting from MTHFR gene mutation underscores the critical
need for proactive screening and management strategies. By addressing elevated homocysteine levels
through targeted interventions such as supplementation and lifestyle modifications, individuals can
mitigate their risk of developing serious health complications. Moreover, early detection and
personalized treatment plans can enhance overall health outcomes, highlighting the importance of
genetic awareness and precision medicine in optimizing patient care.

4/4

User
I want a conclusion for my ppt which is based on mthfr gene and polymorphism,and
hyperhomocydteineimia ,importance of this disease

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In conclusion, understanding the intricate relationship between the MTHFR gene, its polymorphisms,
and the resulting hyperhomocysteinemia sheds light on the significance of this condition in health
outcomes. Through comprehensive genetic testing, healthcare professionals can identify individuals at
risk and implement tailored interventions to mitigate the associated health complications, including
cardiovascular diseases, blood clots, stroke, and pregnancy-related issues. By prioritizing early detection
and personalized management strategies, we can improve patient outcomes and pave the way for more
effective preventive healthcare measures in the future.

User
Easy wording in 8 sentences for ppt

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the MTHFR gene and its variations

In summary,

play a crucial role in regulating

homocysteine levels in the body. When
mutations occur in this gene, they can
lead to hyperhomocysteinemia, a
condition associated with various health
risks. Elevated homocysteine levels have been linked to cardiovascular disease, blood clots,
stroke, and pregnancy complications. Detecting these mutations through genetic testing allows for
personalized interventions to manage the condition effectively. By implementing targeted strategies such
as supplementation and lifestyle changes, individuals can reduce their risk of developing serious health
problems. Early identification of MTHFR gene mutations enables healthcare professionals to tailor
treatment plans, improving patient outcomes and quality of life. Ultimately, raising awareness about the
importance of genetic testing and personalized medicine empowers individuals to take proactive steps
towards better health.

cardiovascular disease, stroke, and other

health problems. Such as
• Birth abnormalities: This may include
neural tube defects or conditions such
as microcephaly, in which the head is
smaller than expected at birth.
• Dementia: Dementia involves symptoms of
cognitive decline, such as memory loss,
confusion, and mood changes.
 • Mental health conditions: People with the
MTHFR gene variant may be at higher risk
of depression
Peripheral neuropathy: This is a neurological
condition that damages the nerves.
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