Mitochondrial Diseases

Publication Title: 
Journal of Neurochemistry

The search for effective treatments that prevent oxidative stress associated with premature ageing and neurodegenerative diseases is an important area of neurochemical research. As age- and disease-related oxidative stress is frequently associated with mitochondrial dysfunction, amphiphilic antioxidant agents of high stability and selectivity that target these organelles can provide on-site protection.

Poeggeler, Burkhard
Durand, GrÈgory
Polidori, Ange
Pappolla, Miguel A.
Vega-Naredo, Ignacio
Coto-Montes, Ana
Bˆker, Jutta
Hardeland, R¸diger
Pucci, Bernard
Publication Title: 
Experimental Gerontology

As in the case of aging, many degenerative disorders also result from progressive mitochondrial deterioration and cellular damage accumulation. Therefore, preventing damage accumulation may delay aging and help to prevent degenerative disorders, especially those associated with mitochondrial dysfunction. In the nematode Caenorhabditis elegans a mild mitochondrial dysfunction prolongs the lifespan.

Torgovnick, Alessandro
Schiavi, Alfonso
Testi, Roberto
Ventura, Natascia
Publication Title: 
PloS One

The human gene C10orf2 encodes the mitochondrial replicative DNA helicase Twinkle, mutations of which are responsible for a significant fraction of cases of autosomal dominant progressive external ophthalmoplegia (adPEO), a human mitochondrial disease caused by defects in intergenomic communication. We report the analysis of orthologous mutations in the Drosophila melanogaster mitochondrial DNA (mtDNA) helicase gene, d-mtDNA helicase.

Sanchez-Martinez, Alvaro
Calleja, Manuel
Peralta, Susana
Matsushima, Yuichi
Hernandez-Sierra, Rosana
Whitworth, Alexander J.
Kaguni, Laurie S.
Garesse, Rafael
Publication Title: 
Nucleic Acids Research

The translation of genes encoded in the mitochondrial genome requires specific machinery that functions in the organelle. Among the many mutations linked to human disease that affect mitochondrial translation, several are localized to nuclear genes coding for mitochondrial aminoacyl-transfer RNA synthetases. The molecular significance of these mutations is poorly understood, but it is expected to be similar to that of the mutations affecting mitochondrial transfer RNAs.

Guitart, Tanit
Picchioni, Daria
PiÒeyro, David
Ribas de Pouplana, LluÌs
Publication Title: 
Clinical Science (London, England: 1979)

Among the numerous theories that explain the process of aging, the mitochondrial theory of aging has received the most attention. This theory states that electrons leaking from the ETC (electron transfer chain) reduce molecular oxygen to form O2*- (superoxide anion radicals). O2*-, through both enzymic and non-enzymic reactions, can cause the generation of other ROS (reactive oxygen species). The ensuing state of oxidative stress results in damage to ETC components and mtDNA (mitochondrial DNA), thus increasing further the production of ROS.

Alexeyev, Mikhail F.
Ledoux, Susan P.
Wilson, Glenn L.
Publication Title: 
Research in Sports Medicine (Print)

The sirtuin family of proteins consists of seven members in mammals (SirT1-T7). Sirtuins share NAD dependency for their enzymatic activity, but some show NAD-dependent deacetylase activity, others exhibit ADP ribosyltransferase activity or both. Sirtuins have gained considerable attention due to their impact as physiological targets for treating diseases associated with aging. Sirtuins interact with metabolic pathways and may serve as entry points for drugs. This review discusses the biology of sirtuins and their potential as mediators of caloric restriction and pharmacological targets.

Lappalainen, Zekine
Publication Title: 
Trends in Molecular Medicine

Schizophrenia is a heterogeneous disease generally considered to result from a combination of heritable and environmental factors. Although its pathophysiology has not been fully determined, biological studies support the involvement of several possible components including altered DNA methylation, abnormal glutamatergic transmission, altered mitochondrial function, folate deficiency and high maternal homocysteine levels. Although these factors have been explored separately, they all involve one-carbon (C1) metabolism.

Krebs, M. O.
Bellon, Alfredo
Mainguy, Gaell
Jay, T. M.
Frieling, Helge
Publication Title: 
Wiener Medizinische Wochenschrift (1946)

We describe a family with a severely disabled child who demonstrates many of the characteristics of resilient families: strong relationships, good communication, and profound love of the disabled child. But this family has a characteristic that is infrequently described in the literature yet common in practice: the mother initiated many medical decisions based on knowledge gathered on the Internet. Parental education on the Internet can now allow families to gain a sense of mastery over their child's disease.

Sutton, Marianne B.
Windischbauer, Stefanie
Sutton, Evelyne Magali St John
Weixler, Dietmar
Publication Title: 

PURPOSE: Because of the large and continuous energetic requirements of brain function, neurometabolic dysfunction is a key pathophysiologic aspect of the epileptic brain. Additionally, neurometabolic dysfunction has many self-propagating features that are typical of epileptogenic processes, that is, where each occurrence makes the likelihood of further mitochondrial and energetic injury more probable. Thus abnormal neurometabolism may be not only a chronic accompaniment of the epileptic brain, but also a direct contributor to epileptogenesis.

Pan, Jullie W.
Williamson, Anne
Cavus, Idil
Hetherington, Hoby P.
Zaveri, Hitten
Petroff, Ognen A. C.
Spencer, Dennis D.
Publication Title: 
Neuromolecular Medicine

The high demand for molecular oxygen, the enrichment of polyunsaturated fatty acids in membrane phospholipids, and the relatively low abundance of antioxidant defense enzymes are factors rendering cells in the central nervous system (CNS) particularly vulnerable to oxidative stress. Excess production of reactive oxygen species (ROS) in the brain has been implicated as a common underlying factor for the etiology of a number of neurodegenerative diseases, including Alzheimer's disease (AD), Parkinson's disease (PD), and stroke.

Sun, Albert Y.
Wang, Qun
Simonyi, Agnes
Sun, Grace Y.


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