Dysfunctional lamins as mediators of oxidative stress in Emery-Dreifuss muscular dystrophy

Irena Niebroj-Dobosz; Beata Sokołowska; Agnieszka Madej-Pilarczyk; Michał Marchel; Irena Hausmanowa-Petrusewicz

doi:10.5114/fn.2017.70483

eISSN: 1509-572x
ISSN: 1641-4640

Folia Neuropathologica

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3/2017
vol. 55

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abstract:

Original paper

Dysfunctional lamins as mediators of oxidative stress in Emery-Dreifuss muscular dystrophy

Irena Niebroj-Dobosz

,

Beata Sokołowska

,

Agnieszka Madej-Pilarczyk

,

Michał Marchel

,

Irena Hausmanowa-Petrusewicz

Folia Neuropathol 2017; 55 (3): 193-198

DOI: https://doi.org/10.5114/fn.2017.70483

Online publish date: 2017/09/30

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Deficit of lamin A/C or emerin causes genetically transmitted Emery-Dreifuss muscular dystrophy (EDMD). As lamins are considered to be mediators of oxidative stress, the antioxidant/oxidant status was examined. The total oxidant/antioxidant status in serum was examined in 29 cases of Emery-Dreifuss muscular dystrophy. The study included 12 autosomal-dominant laminopathies (AD-EDMD), 17 X-linked emerinopathies (X-EDMD) and 20 age-matched normal subjects. Total oxidant status (TOS) was reduced in all cases, and the total antioxidant capacity (TAC) was found to be decreased in the majority of the patients (in 82.8%). A relationship between TOS level and disease progression was noted. No correlation between TOS/TAC level and cardiological or neurological parameters was detected.

The results of the study indicate disturbances of redox balance in EDMD patients. Determination of TOS/TAC might help to assess the progress of the disease and the potential effectiveness of antioxidant therapy.

keywords:

Dysfunctional lamins as mediators of oxidative stress in Emery-Dreifuss muscular dystrophy

Irena Niebroj-Dobosz , Beata Sokołowska , Agnieszka Madej-Pilarczyk , Michał Marchel , Irena Hausmanowa-Petrusewicz

lamin deficiency, oxidative stress, Emery-Dreifuss muscular dystrophy

Irena Niebroj-Dobosz

,

Beata Sokołowska

,

Agnieszka Madej-Pilarczyk

,

Michał Marchel

,

Irena Hausmanowa-Petrusewicz