Sheremet N L, Andreeva N A, Zhorzholadze N V, Murakhovskaya Yu K, Shmelkova M S, Krylova T D, Tsygankova P G
Research Institute of Eye Diseases, Moscow, Russia.
N.P. Bochkov Research Centre for Medical Genetics, Moscow, Russia.
Vestn Oftalmol. 2022;138(4):29-34. doi: 10.17116/oftalma202213804129.
Folate metabolism disorders are known to have a potential involvement in the pathophysiology of mitochondrial diseases. Many researchers suggest that profound systemic folate deficiency may contribute to mitochondrial folate deficiency. Folic acid metabolism is closely related to vitamin B and homocysteine. Considering that hereditary optic neuropathies (HON) are mitochondrial diseases, it is important to study the folate status, the content of vitamin B and homocysteine in patients with this pathology.
To compare the content of folic acid, vitamin B and homocysteine in the blood serum of patients with Leber's hereditary optic neuropathy (LHON) and autosomal recessive optic neuropathy (ARON), optic neuropathy of other genesis, and the comparison group.
The study involved 58 patients with LHON and ARON, the control group of 49 patients with ischemic, inflammatory, traumatic and compressive optic neuropathies, and the comparison group of 20 healthy volunteers.
A decrease in blood folic acid levels was revealed (4.0±1.6 ng/mL) in patients with HON compared to the control group (=1.3·10) and the comparison group (=1·10). The content of vitamin B in patients with HON was 380.8±168.1 pg/mL, which was significantly lower than in the comparison group (=0.0001). The homocysteine content was 14.1±5.6 μmol/L in patients with HON, which was significantly higher than in the control group (=0.0007) and the comparison group (=0.000003). At the same time, an increase in homocysteine level of more than 10 µmol/L was revealed in 75% of patients with HON. Similar metabolic disorders were found in groups with various mutations in mitochondrial and nuclear DNA.
Patients with HON showed marked decrease in the levels of folic acid and vitamin B, as well as hyperhomocysteinemia. It is very important to identify the causes of metabolic disorders in order to determine the role of folate deficiency in the development of HON, as well as the possibility of its pharmacological treatment.
已知叶酸代谢紊乱可能参与线粒体疾病的病理生理过程。许多研究人员认为，严重的全身性叶酸缺乏可能导致线粒体叶酸缺乏。叶酸代谢与维生素B和同型半胱氨酸密切相关。鉴于遗传性视神经病变（HON）属于线粒体疾病，研究此类患者的叶酸状态、维生素B含量和同型半胱氨酸水平具有重要意义。
比较Leber遗传性视神经病变（LHON）、常染色体隐性视神经病变（ARON）、其他病因的视神经病变患者以及对照组血清中叶酸、维生素B和同型半胱氨酸的含量。
该研究纳入了58例LHON和ARON患者、49例缺血性、炎症性、外伤性和压迫性视神经病变患者组成的对照组以及20名健康志愿者组成的比较组。
与对照组（P = 1.3·10）和比较组（P = 1·10）相比，HON患者的血清叶酸水平降低（4.0±1.6 ng/mL）。HON患者的维生素B含量为380.8±168.1 pg/mL，显著低于比较组（P = 0.0001）。HON患者的同型半胱氨酸含量为14.1±5.6 μmol/L，显著高于对照组（P = 0.0007）和比较组（P = 0.000003）。同时，75%的HON患者同型半胱氨酸水平升高超过10 µmol/L。在具有线粒体和核DNA各种突变的组中也发现了类似的代谢紊乱。
HON患者的叶酸和维生素B水平显著降低，同时存在高同型半胱氨酸血症。识别代谢紊乱的原因对于确定叶酸缺乏在HON发病中的作用以及药物治疗的可能性非常重要。
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