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An explanation for the decreased severity of liver malfunction in Niemann-Pick C1 disease with age.
- Source :
-
Journal of applied genetics [J Appl Genet] 2022 Sep; Vol. 63 (3), pp. 469-474. Date of Electronic Publication: 2022 May 05. - Publication Year :
- 2022
-
Abstract
- Niemann-Pick C disease frequently presents as severe cholestatic disease in infants. However, it progressively becomes less of a problem as children age. We have found that, in an appropriate mouse model, liver cholesterol levels, which are initially very high, decrease while mitochondrial function, initially quite compromised, increases with age. The key mitochondrial regulator, MNRR1, increases in parallel with the increase in mitochondrial function. These changes appear to explain the amelioration of the liver disease that occurs with time in this disorder.<br /> (© 2022. The Author(s), under exclusive licence to Institute of Plant Genetics Polish Academy of Sciences.)
Details
- Language :
- English
- ISSN :
- 2190-3883
- Volume :
- 63
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Journal of applied genetics
- Publication Type :
- Academic Journal
- Accession number :
- 35508755
- Full Text :
- https://doi.org/10.1007/s13353-022-00695-y