Epicanthal Folds in Methylene Tetrahydrofolate Reductase(MTHFR)

January 16, 2017

Mthfr is a mutation in genes which may effect almost 30 to 50 percent of population. It is the type of gene mutation which is not visible in all cases, and patients with this mutation may not aware of this genetic mutation. Mthfr is abbreviated as methylene tetrahydrofolate reductase. It is an enzyme which helps in coversion of vitamin B9 named as folate into a more useful compound named methylfolate. And this process of conversion of folate into methyl folate is known as methylation. So, folate is considered not good for people with mthfr gene mutation. This conversion of folate into methylfolate is important for many body and cell functions.

Methylation helps in synthesis of DNA and repair of DNA, production of neurotransmitter, immune function and detoxification. So when gene mutation occur in mthfr, it leads to reduction in methylation process. Mthfr is related to many other diseased conditions like depression, recurrent miscarriage, alzheimer, heart disease. Prostate cancer and bladder cancer are also listed. Folate itself is a mother nature no. 1 methyl donor. It helps in presenting the final form of any tissue growing in body. Methylation is a process conducted by methylene tetrahydro folate reductase is associated with feel and vision of person.

Here are some physical conditions whose presence shows problem in methylation process. These physical conditions involve epicanthal folds, down syndrome, fetal alcohol syndrome, cleft palate, scoliosis, austism spectrum, marfan’s syndrome, klienfelter’s syndrome, short limbs, anueploidoes and other trisomies, arnold chiari mal formation, midline birth defects and other congenital diseases. As epicanthal folds occur in many congenital diseases including down syndrome and fetal alcohol syndrome, so methylene tetrahydro folate reductase genetic mutation is considered a main cause behind these diseases and ultimately leads to epicanthal folds. In other words, we can say that mutation in methylation process is counted as a major cause behind epicanthal folds appeaeance.

All these diseases mentioned above shows genetic mutation of mthfr in people. Epicanthal folds are commonest with methyl tetrahydro folate reductase mutation. Basically mthfr genetic mutation contains above 50 types. And each type of mthfr is related to a seperate problem.
Like C677T and A1298C are most common mthfr mutation which are studied the most. Studies show that parents with C677T mthfr gene mutation may be hetrozygous or homozygous. Hetrozygous means having one mutated gene and other one is normal i.e. have single copy.

While in case of homozygous both gene may be mutated i.e. two have two copies. People with homozygous mutation may show 70 percent loss of functions and people with heterozygous mutation show about 40 percent loss of functions. So parents with these genetic mutations should take care of it during pregnancy because mthfr physical diseases like epicanthal folds may pass on to their infants. An example will illustrate this more acxurately. If mother is having mthfr mutation during pregnancy, then it may transfer to her new born in the form of a disease like down syndrome and ultimately cause epicanthal folds appearance.