Ultrastructural and functional abnormalities of mitochondria in cultivated fibroblasts from alpha-mannosidosis patients

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F09%3A3858" target="_blank" >RIV/00216208:11110/09:3858 - isvavai.cz</a>

Alternative codes found

RIV/00064165:_____/09:3858

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Ultrastructural and functional abnormalities of mitochondria in cultivated fibroblasts from alpha-mannosidosis patients

Original language description

Mannosidosis -alpha is a lysosomal storage disorder caused by ?-mannosidase deficiency. Clinical course of the disease ranges from severe infantile to milder juvenile type and includes mental retardation, skeletal deformities, coarse facies, hepatomegalyand hearing loss. The aim of the study was to analyse mitochondrial ultrastructure and function in cultivated fibroblasts from three patients with ?-mannosidosis. All patients were homozygous for the c.2248C>T mutation in the MAN2B1 gene encoding lysosomal ?-mannosidase. The mutation results in incorrect protein folding and severe decrease of ?-mannosidase activity. The misfolded protein is retained by the control system of endoplasmic reticulum (ER). In analysed fibroblasts, we observed dilated ER, higher amount of aberrant mitochondria and reduced mitochondrial mass compared to controls. Respiratory chain complex IV, cytochrome c oxidase (COX), activity and the ratio between COX and citrate synthase (control enzyme) were significantl

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

EA - Morphology and cytology

OECD FORD branch

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Project

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Continuities

Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year

2009

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Biologia: Section Cellular and Molecular Biology

ISSN

0006-3088

e-ISSN

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Volume of the periodical

64

Issue of the periodical within the volume

2

Country of publishing house

SK - SLOVAKIA

Number of pages

8

Pages from-to

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UT code for WoS article

000263540800027

EID of the result in the Scopus database

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