China
Africa
Explore chapters and articles related to this topic
Clinical Manifestation of Mitochondrial Disorders in Childhood
Published in Shamim I. Ahmad, Handbook of Mitochondrial Dysfunction, 2019
Leigh syndrome (Leigh, 1951) itself has two different meanings. The first represents the radiological or pathological findings of focal bilaterally symmetrical lesions, especially in the thalamus and brainstem regions. The other broadens this meaning to the clinical unit also known as subacute necrotizing encephalomyelopathy. Genetically, LS is very heterogenous and should be defined in by specific mutation or protein deficit where possible, as some particular may specifically differ in their clinical manifestation (e.g., SURF1 or pyruvate-dehydrogenase complex deficiency). In general, LS may be caused by deficits of respiratory chain complex subunits (complex I, II, IV, and V) and their cofactors (e.g., co-enzyme Q10), mutations in nDNA (e.g., SCO2, SURF1), mtDNA encoded tRNA, or the pyruvate dehydrogenase complex (Loeffen et al., 2000; Finsterer, 2008). Mitochondrial respiratory chain complex I (nicotinamide adenine dinucleotide-ubiquinone oxidoreductase) is the largest enzymatic complex of the mitochondrial respiratory chain. Defects in complex I due to nuclear DNA mutations are one of the most frequent casuses of LS. Various mutations in subunits of complex I encoded by nDNA (NDUFV1, NDUFV2, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, and NDUFS8 were reported (Marin et al., 2013).
Sericin-mediated improvement of dysmorphic cardiac mitochondria from hypercholesterolaemia is associated with maintaining mitochondrial dynamics, energy production, and mitochondrial structure
Published in Pharmaceutical Biology, 2022
Kitiya Rujimongkon, Sumate Ampawong, Duangnate Isarangkul, Onrapak Reamtong, Pornanong Aramwit
The expression of HDHD3 and NDUFS1 has been reported to produce an adaptive effect related to the improved hepatic mitochondrial structure under hypercholesterolemic conditions through sericin treatment (Ampawong et al. 2018). HDHD3 plays a role in mitochondrial metabolism (Giguère 2008). Our study showed that the expression of HDHD3 tended to increase but did not significantly lead to a change in cardiac mitochondria after sericin treatment. Conversely, a previous study on liver mitochondrial structures revealed that sericin induces HDHD3 expression in all stages of mitochondria to maintain energy levels (Ampawong et al. 2018). Sericin may have no effect on cardiac mitochondrial metabolism, in contrast to its effects on liver mitochondria. Another protein, NDUFS1, is involved in electron transport chain complex I. NDUFS1 has also been reported to be a caspase substrate in apoptosis (Ricci et al. 2004). In this study, cardiac mitochondria showed no changes in the average expression of NDUFS1 after sericin treatment. Only the ghost stage (the last stage of dysmorphic mitochondria) had significantly reduced NDUFS1 expression after sericin treatment. This result suggests that sericin reduces NDUFS1 expression in ghost-stage mitochondria to prevent apoptosis and is similar to NDUFS1 expression in liver mitochondria, which shows decreased expression after sericin treatment (Ampawong et al. 2018). This evidence implies that sericin improves mitochondrial function after hypercholesterolaemia by an independent function of the affected organ.
Gene expression study of mitochondrial complex I in schizophrenia and paranoid personality disorder
Published in The World Journal of Biological Psychiatry, 2018
Arvin Haghighatfard, Sarah Andalib, Mozhdeh Amini Faskhodi, Soha Sadeghi, Amir Hossein Ghaderi, Shadi Moradkhani, Jalal Rostampour, Zeinab Tabrizi, Ali Mahmoodi, Talie Karimi, Zakieh Ghadimi
The results reveal NDUFS1 as a specific marker for the paranoid subtype of SCZ with significant over-expression in comparison with other subtypes. These results may introduce NDUFS1 as the first subtype-specific biomarker in SCZ and revive the hypothesis about the reclassification of SCZ and the separation of the paranoid subtype from SCZ. Over-expression of NDUFS1 in PPD patients alos supports this hypothesis. Significant over-expression of NDUFS1 in PPD and the paranoid subtype could reveal it as a candidate gene in the molecular mechanisms of paranoid behaviour. Medication effects on gene expression are one of the most important obstacles which make it hard to interpret whether alterations of the mRNA levels of a gene are related to the disease rather than the medications. Also, complex I genes are not the direct target of antipsychotics, and the significant expression changes in genes in this study are stronger than that could be related to antipsychotic usage. In addition, there was no relation between medication classes and gene expression that would reduce the importance of medication in complex I gene expression.