NDUFA12L Mitochondrial Complex-I Assembly Factor: Implications for Taupathies

Overview

Journal Appl Transl Genom

Specialty Genetics

Date 2016 Mar 4

PMID 26937358

Citations 1

Authors

Mohamed Salama

Wael M Y Mohamed

Affiliations

Soon will be listed here.

Abstract

There is a strong correlation between taupathies and the development and progression of neurodegenerative disorders. Abnormal tau becomes hyperphosphorylated and dissociated from microtubules with the aggregation of intracellular tau aggregates within the patient's brain. The current review is divided into two broad sections. In the first section we discuss the molecular biology and the clinicopathologic features of taupathies. While in the second section we discuss the relationship between mitochondrial complex-I and taupathies. Polymorphism in NDUFA12L may be a crucial factor for development of neurodegenerative taupathies. Thus NDUFA12L screening may be an early biomarker for identifying risk groups for such disorders.

Citing Articles

Mitochondrial protein dysfunction in pathogenesis of neurological diseases.

Wang L, Yang Z, He X, Pu S, Yang C, Wu Q Front Mol Neurosci. 2022; 15:974480.

PMID: 36157077 PMC: 9489860. DOI: 10.3389/fnmol.2022.974480.

References

Lannuzel A, Hoglinger G, Verhaeghe S, Gire L, Belson S, Escobar-Khondiker M . Atypical parkinsonism in Guadeloupe: a common risk factor for two closely related phenotypes?. Brain. 2007; 130(Pt 3):816-27. DOI: 10.1093/brain/awl347. View

Shiryaev N, Jouroukhin Y, Giladi E, Polyzoidou E, Grigoriadis N, Rosenmann H . NAP protects memory, increases soluble tau and reduces tau hyperphosphorylation in a tauopathy model. Neurobiol Dis. 2009; 34(2):381-8. DOI: 10.1016/j.nbd.2009.02.011. View

Binder L, Frankfurter A, REBHUN L . The distribution of tau in the mammalian central nervous system. J Cell Biol. 1985; 101(4):1371-8. PMC: 2113928. DOI: 10.1083/jcb.101.4.1371. View

Van de Nes J, Nafe R, Schlote W . Non-tau based neuronal degeneration in Alzheimer's disease -- an immunocytochemical and quantitative study in the supragranular layers of the middle temporal neocortex. Brain Res. 2008; 1213:152-65. DOI: 10.1016/j.brainres.2008.03.043. View

Valsecchi F, Esseling J, Koopman W, Willems P . Calcium and ATP handling in human NADH:ubiquinone oxidoreductase deficiency. Biochim Biophys Acta. 2009; 1792(12):1130-7. DOI: 10.1016/j.bbadis.2009.01.001. View

Ludolph A, Kassubek J, Landwehrmeyer B, Mandelkow E, Mandelkow E, Burn D . Tauopathies with parkinsonism: clinical spectrum, neuropathologic basis, biological markers, and treatment options. Eur J Neurol. 2009; 16(3):297-309. PMC: 2847416. DOI: 10.1111/j.1468-1331.2008.02513.x. View

Lasagna-Reeves C, Castillo-Carranza D, Sengupta U, Clos A, Jackson G, Kayed R . Tau oligomers impair memory and induce synaptic and mitochondrial dysfunction in wild-type mice. Mol Neurodegener. 2011; 6:39. PMC: 3224595. DOI: 10.1186/1750-1326-6-39. View

Hollerhage M, Matusch A, Champy P, Lombes A, Ruberg M, Oertel W . Natural lipophilic inhibitors of mitochondrial complex I are candidate toxins for sporadic neurodegenerative tau pathologies. Exp Neurol. 2009; 220(1):133-42. DOI: 10.1016/j.expneurol.2009.08.004. View

Wanrooij S, Falkenberg M . The human mitochondrial replication fork in health and disease. Biochim Biophys Acta. 2010; 1797(8):1378-88. DOI: 10.1016/j.bbabio.2010.04.015. View

10.

Lazarou M, Thorburn D, Ryan M, McKenzie M . Assembly of mitochondrial complex I and defects in disease. Biochim Biophys Acta. 2008; 1793(1):78-88. DOI: 10.1016/j.bbamcr.2008.04.015. View

11.

Kumar Dasappa J, Nagendra H . Preferential selectivity of inhibitors with human tau protein kinase gsk3β elucidates their potential roles for off-target Alzheimer's therapy. Int J Alzheimers Dis. 2013; 2013:809386. PMC: 3810200. DOI: 10.1155/2013/809386. View

12.

Gibson G, Starkov A, Blass J, Ratan R, Beal M . Cause and consequence: mitochondrial dysfunction initiates and propagates neuronal dysfunction, neuronal death and behavioral abnormalities in age-associated neurodegenerative diseases. Biochim Biophys Acta. 2009; 1802(1):122-34. PMC: 2790547. DOI: 10.1016/j.bbadis.2009.08.010. View

13.

Denk F, Wade-Martins R . Knock-out and transgenic mouse models of tauopathies. Neurobiol Aging. 2007; 30(1):1-13. PMC: 2806682. DOI: 10.1016/j.neurobiolaging.2007.05.010. View

14.

Neumann K, Farias G, Slachevsky A, Perez P, Maccioni R . Human platelets tau: a potential peripheral marker for Alzheimer's disease. J Alzheimers Dis. 2011; 25(1):103-9. DOI: 10.3233/JAD-2011-101641. View

15.

Albers D, Swerdlow R, Manfredi G, GAJEWSKI C, Yang L, Parker Jr W . Further evidence for mitochondrial dysfunction in progressive supranuclear palsy. Exp Neurol. 2001; 168(1):196-8. DOI: 10.1006/exnr.2000.7607. View

16.

Albers D, Augood S, PARK L, Browne S, Martin D, Adamson J . Frontal lobe dysfunction in progressive supranuclear palsy: evidence for oxidative stress and mitochondrial impairment. J Neurochem. 2000; 74(2):878-81. DOI: 10.1046/j.1471-4159.2000.740878.x. View

17.

Janssen R, van den Heuvel L, Smeitink J . Genetic defects in the oxidative phosphorylation (OXPHOS) system. Expert Rev Mol Diagn. 2004; 4(2):143-56. DOI: 10.1586/14737159.4.2.143. View

18.

Kulic L, Wollmer M, Rhein V, Pagani L, Kuehnle K, Cattepoel S . Combined expression of tau and the Harlequin mouse mutation leads to increased mitochondrial dysfunction, tau pathology and neurodegeneration. Neurobiol Aging. 2009; 32(10):1827-38. DOI: 10.1016/j.neurobiolaging.2009.10.014. View

19.

Stamelou M, Reuss A, Pilatus U, Magerkurth J, Niklowitz P, Eggert K . Short-term effects of coenzyme Q10 in progressive supranuclear palsy: a randomized, placebo-controlled trial. Mov Disord. 2008; 23(7):942-949. DOI: 10.1002/mds.22023. View

20.

Zhang L, Xing Y, Ye C, Ai H, Wei H, Li L . Learning-memory deficit with aging in APP transgenic mice of Alzheimer's disease and intervention by using tetrahydroxystilbene glucoside. Behav Brain Res. 2006; 173(2):246-54. DOI: 10.1016/j.bbr.2006.06.034. View