Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60

American Journal of Human Genetics
Jens Jacob HansenPeter Bross

Abstract

SPG13, an autosomal dominant form of pure hereditary spastic paraplegia, was recently mapped to chromosome 2q24-34 in a French family. Here we present genetic data indicating that SPG13 is associated with a mutation, in the gene encoding the human mitochondrial chaperonin Hsp60, that results in the V72I substitution. A complementation assay showed that wild-type HSP60 (also known as "HSPD1"), but not HSP60 (V72I), together with the co-chaperonin HSP10 (also known as "HSPE1"), can support growth of Escherichia coli cells in which the homologous chromosomal groESgroEL chaperonin genes have been deleted. Taken together, our data strongly indicate that the V72I variation is the first disease-causing mutation that has been identified in HSP60.

References

Mar 21, 2000·American Journal of Human Genetics·B FontaineA Brice
Apr 27, 2000·Trends in Biochemical Sciences·T Langer
Oct 26, 2000·The Journal of Biological Chemistry·A RichardsonC Georgopoulos
May 30, 2001·Current Opinion in Genetics & Development·G Casari, E Rugarli
Jul 27, 2001·Current Opinion in Neurology·C M TallaksenA Brice
Aug 30, 2001·Trends in Genetics : TIG·A M Slavotinek, L G Biesecker

❮ Previous
Next ❯

Citations

Jul 12, 2002·Annals of Neurology·John K Fink
Sep 1, 2005·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Stephan Züchner, Jeffery M Vance
Apr 11, 2007·Journal of Neurology·Jakob HansenPeter Bross
Jun 10, 2006·Journal of Inherited Metabolic Disease·N Gregersen
May 22, 2010·Journal of Inherited Metabolic Disease·Salvatore Dimauro
Jun 11, 2008·Current Neurology and Neuroscience Reports·Giovanni StevaninAlexis Brice
Feb 14, 2006·Current Neurology and Neuroscience Reports·John K Fink
Nov 5, 2003·Experimental Neurology·John K Fink
Nov 11, 2003·Journal of the Neurological Sciences·P A WilkinsonA H Crosby
Nov 24, 2007·Journal of Proteome Research·Jermel WatkinsDaniel F Bogenhagen
Oct 29, 2008·Oncogene·A Hishiya, S Takayama
Dec 8, 2005·European Journal of Human Genetics : EJHG·Ahmed BouhoucheMohamed Yahyaoui
Jun 27, 2003·The New England Journal of Medicine·Salvatore DiMauro, Eric A Schon
Aug 27, 2009·The Journal of Biological Chemistry·Avital ParnasAbdussalam Azem
Mar 29, 2013·Molecular Biology of the Cell·Sergio Carilla-LatorreRicardo Escalante
Dec 6, 2008·Brain : a Journal of Neurology·Jennifer L Orthmann-MurphyDavide Pareyson
Jan 18, 2005·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Alberto J L MacarioEverly Conway de Macario
Jun 2, 2011·Cold Spring Harbor Perspectives in Biology·Michael J BakerThomas Langer
May 26, 2006·Annual Review of Genomics and Human Genetics·Niels GregersenJane H Christensen
Mar 13, 2008·Annual Review of Neuroscience·Salvatore DiMauro, Eric A Schon
Feb 6, 2003·The Journal of Clinical Investigation·Eric A Schon, Giovanni Manfredi
Jan 15, 2004·The Journal of Clinical Investigation·Fatima FerreirinhaElena I Rugarli
Oct 3, 2013·The Journal of Clinical Investigation·André KleinriddersC Ronald Kahn
Jan 18, 2013·PloS One·Anna Vitlin GruberCeleste Weiss
Jul 22, 2008·Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies·Denise M Kirby, David R Thorburn
Oct 13, 2010·Molecules : a Journal of Synthetic Chemistry and Natural Product Chemistry·Yousuf O AliR Grace Zhai
Apr 11, 2014·Disease Models & Mechanisms·Vaishali KakkarHarm H Kampinga
May 28, 2014·Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences·Radek SzklarczykHeinz D Osiewacz

❮ 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.