Metabolic disorders in hereditary optic neuropathies

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 2026 Вестник офтальмологии (Russian Annals of Ophthalmology)

Использование инфографики авторами научных работ

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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

ORCID: 0000-0003-4597-4987

Andreeva N.A.

Research Institute of Eye Diseases

ORCID: 0000-0001-7329-5725

Zhorzholadze N.V.

Research Institute of Eye Diseases

ORCID: 0000-0003-1771-300X

Murakhovskaya Yu.K.

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

ORCID: 0000-0002-1251-6405

Shmelkova M.S.

Krasnov Research Institute of Eye Diseases

Scopus AuthorID: 57212133498
ORCID: 0000-0003-4731-638X

Krylova T.D.

Bochkov Research Centre for Medical Genetics

ORCID: 0000-0002-7197-3497

Tsygankova P.G.

Bochkov Research Center for Medical Genetics

SPIN RSCI: 1121-3671
Scopus AuthorID: 24077274100
ResearcherID: M-1001-2014
ORCID: 0000-0003-3998-3609

Received:

29.12.2021

Accepted:

12.04.2022

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