a. Elizabeth A. Varga, et al. Homocysteine and MTHFR Mutations Relation to Thrombosis and Coronary Artery Disease. Circulation.

2005;111:289-293

Homocystein Homocysteine is a chemical in the blood that is produced when an amino acid (a building block of protein) called methionine is broken down in the body. We all have some homocysteine in our blood. Elevated homocysteine levels (also called hyperhomocysteinemia) may cause irritation of the blood vessels. Elevated levels of homocysteine show an increased risk for (1) hardening of the arteries (atherosclerosis), which could eventually result in a heart attack and/or stroke, and (2) blood clots in the veins, referred to as venous thrombosis.
Some people have elevated homocysteine levels (Table 1) caused by a deficiency of B vitamins and folate in their diets. High homocysteine levels are also seen in people with kidney disease, low levels of thyroid hormones, psoriasis, and with certain medications (such as antiepileptic drugs and methotrexate).1 It has been recognized that some people have a common genetic variant (called methylenetetrahydrofolate reductase, abbreviated MTHFR) that impairs their ability to process folate. This defective gene leads to elevated levels of homocysteine in some people who inherit MTHFR variants from both parents.

Homosistein adalah bahan kimia di darah yang dihasilkan ketika asam amino methionin dipecah di dalam tubuh. Kita semua memiliki sejumlah kadar homosistein di darah. Meningkatnya kadar homosistein pada beberapa orang disebabkan oleh defisiensi vitamin B dan folat. Kadar yang tinggi ini juga ditemukan pada orang dengan penyakit ginjal, rendahnya hormone tiroid, psoriasis dan yang sedang menggunakan pengobatan tertentu (seperti obat anti epilepsy dan methotrexate). Kadar homosistein yang tinggi juga ditemukan pada orang yang memiliki varian genetik methylenetetrahydrofolate reductase (MTHFR) yang mengalami gangguan dalam memproses folat. Meningkatnya kadar homosistein (hyperhomocysteinemia) menyebabkan iritasi pada pembuluh darah, Terjadi kerusakan oksidatif dari sel endotel pembuluh darah, meningkatkan proliferasi sel otot polos dan terjadi oksidasi LDL yang semuanya ini meningkatkan risiko terjadinya aterosklerosis yang pada akhirnya akan menyebabkan serangan jantung dan stroke serta menimbulkan bekuan darah pada pembuluh darah (thrombosis).a,b Kadar homosistein pasien diukur dengan metode ELISA, kadar diatas 15 mol/liter dikatakan tinggi.c

c.

M. B.Sharif Kazemi, et al. Homocysteine Level and Coronary Artery Disease.Angiology 2006;57:9-14

Homocysteine levels in patients were measured by ELISA method. A homocysteine level above 15 mol/liter was considered high

b. Harish Rao B, et al. RISK PREDICTION HOMOCYSTEINE IN CORONARY HEART DISEASE. Indian Journal of Clinical Biochemistry, 2007; 22 (1): 18-21
Elevated plasma homocysteine may be an important cause for atherosclerosis formation (5). The adverse effects of homocysteine, involve oxidative damage to vascular endothelial cells, increased proliferation of smooth muscle cells, and oxidative modification of low density lipoprotein, all leading to atherosclerosis (6).

Terjadi kerusakan oksidatif dari sel endotel pembuluh darah, meningkatkan proliferasi sel otot polos dan terjadi oksidasi LDL yang semuanya ini menyebabkan aterosklerosis.