PMID: 11923627Mar 30, 2002Paper

Diseases of adenosine triphosphate synthesis in children

Current Opinion in Neurology
Katherine Sims, David Holtzman

Abstract

There is an expanding understanding of primary genetic oxidative-phosphorylation disorders and the recognition of new multi-system clinical phenotypes in the energy metabolism diseases. Although initially recognized in association with mitochondrial DNA mutations, there is progress in the more laborious identification of nuclear DNA encoded genes relevant to mitochondrial structure and function. More pathogenic mitochondrial DNA and nuclear DNA mutations have been identified. Diagnosis of these disorders is often difficult and relies on a concurrence of findings, including recognition of a variety of clinical signs and symptoms, biochemical marker screening, electron transport chain enzyme measurements, and mitochondrial DNA or nuclear DNA mutation assay of genes relevant to mitochondrial structure, function or adenosine triphosphate metabolic pathways. Clinical diagnostic assessment now can be augmented by physiologic imaging techniques, including nuclear magnetic resonance spectroscopy and positron emission tomography. These capabilities should be increasingly helpful for studies of clinical progression and therapeutic intervention. Biologic studies, in families and patients, are beginning to address the factors of mitochondr...Continue Reading

References

Apr 1, 1992·Annals of Neurology·E CiafaloniC Garcia
May 18, 1989·The New England Journal of Medicine·C T MoraesS Servidei
Apr 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·S OgasaharaD Mack
Jun 13, 1998·American Journal of Human Genetics·J PoultonD R Marchington
Jun 20, 1998·Neurology·T H VuD C DeVivo
Dec 5, 1998·American Journal of Human Genetics·J LoeffenL van den Heuvel
Mar 27, 1999·Neuromuscular Disorders : NMD·Y CamposJ Arenas
Dec 11, 1999·Journal of Child Neurology·S DiMauroD C De Vivo
Jan 21, 2000·Journal of Child Neurology·A NissenkornT Lerman-Sagie
Aug 5, 2000·Science·J KaukonenA Suomalainen
Nov 10, 2000·Current Opinion in Neurology·A H Schapira
Nov 14, 2000·Trends in Genetics : TIG·P F ChinneryN Howell
Nov 15, 2000·The Journal of Biological Chemistry·L G NijtmansI J Holt
Nov 22, 2000·American Journal of Human Genetics·S RahmanA Suomalainen
Jan 3, 2001·American Journal of Human Genetics·D T BrownP F Chinnery
Feb 24, 2001·Annals of Neurology·P CoronaM Zeviani
Feb 24, 2001·Journal of Child Neurology·C Y TsaoG Morrow
Feb 24, 2001·Journal of Child Neurology·C J WilsonS Rahman
Apr 11, 2001·Neurology·O MusumeciS DiMauro
Apr 21, 2001·European Journal of Human Genetics : EJHG·A TessaF M Santorelli
May 1, 2001·Annals of Internal Medicine·P J GuillausseauB Vialettes

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

© 2022 Meta ULC. All rights reserved