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Sheremet N.L.

Krasnov Research Institute of Eye Diseases

Andreeva N.A.

Research Institute of Eye Diseases

Zhorzholadze N.V.

Research Institute of Eye Diseases

Murakhovskaya Yu.K.

Krasnov Research Institute of Eye Diseases;
Sechenov First Moscow State Medical University

Shmelkova M.S.

Krasnov Research Institute of Eye Diseases

Krylova T.D.

Bochkov Research Centre for Medical Genetics

Tsygankova P.G.

Bochkov Research Center for Medical Genetics

Metabolic disorders in hereditary optic neuropathies

Authors:

Sheremet N.L., Andreeva N.A., Zhorzholadze N.V., Murakhovskaya Yu.K., Shmelkova M.S., Krylova T.D., Tsygankova P.G.

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Journal: Russian Annals of Ophthalmology. 2022;138(4): 29‑34

DOI: 10.17116/oftalma20221380429

Views: 732

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To cite this article:

Sheremet NL, Andreeva NA, Zhorzholadze NV, Murakhovskaya YuK, Shmelkova MS, Krylova TD, Tsygankova PG. Metabolic disorders in hereditary optic neuropathies. Russian Annals of Ophthalmology. 2022;138(4):29‑34. (In Russ.)
https://doi.org/10.17116/oftalma20221380429

Подписка 2025 (Russian Annals of Ophthalmology)
 
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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 B12 and homocysteine. Considering that hereditary optic neuropathies (HON) are mitochondrial diseases, it is important to study the folate status, the content of vitamin B12 and homocysteine in patients with this pathology.

OBJECTIVE

To compare the content of folic acid, vitamin B12 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.

MATERIAL AND METHODS

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.

RESULTS

A decrease in blood folic acid levels was revealed (4.0±1.6 ng/mL) in patients with HON compared to the control group (p=1.3·10–8) and the comparison group (p=1·10–17). The content of vitamin B12 in patients with HON was 380.8±168.1 pg/mL, which was significantly lower than in the comparison group (p=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 (p=0.0007) and the comparison group (p=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.

CONCLUSION

Patients with HON showed marked decrease in the levels of folic acid and vitamin B12, 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.

Keywords:

Leber hereditary optic neuropathy
autosomal recessive optic neuropathies
recessive optic atrophy
folic acid
vitamin B12
homocysteine
hereditary optic neuropathies
nutritional optic neuropathies

Authors:

Sheremet N.L.

Krasnov Research Institute of Eye Diseases

Andreeva N.A.

Research Institute of Eye Diseases

Zhorzholadze N.V.

Research Institute of Eye Diseases

Murakhovskaya Yu.K.

Krasnov Research Institute of Eye Diseases;
Sechenov First Moscow State Medical University

Shmelkova M.S.

Krasnov Research Institute of Eye Diseases

Krylova T.D.

Bochkov Research Centre for Medical Genetics

Tsygankova P.G.

Bochkov Research Center for Medical Genetics

Received:

29.12.2021

Accepted:

12.04.2022

List of references:

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  12. Sheremet NL, Krylova TD, Tsygankova PG. New possibilitie s in diagnosis of hereditary optic neuropathies. The Russian Annals of Ophthalmology. 2021;137(5-2):361-366. (In Russ.). https://doi.org/10.17116/oftalma2021137052361
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