A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome

The Journal of Clinical Investigation
A BarrientosV Nunes

Abstract

Wolfram syndrome is a progressive neurodegenerative disorder transmitted in an autosomal recessive mode. We report two Wolfram syndrome families harboring multiple deletions of mitochondrial DNA. The deletions reached percentages as high as 85-90% in affected tissues such as the central nervous system of one patient, while in other tissues from the same patient and from other members of the family, the percentages of deleted mitochondrial DNA genomes were only 1-10%. Recently, a Wolfram syndrome gene has been linked to markers on 4p16. In both families linkage between the disease locus and 4p16 markers gave a maximum multipoint lod score of 3.79 at theta = 0 (P<0.03) with respect to D4S431. In these families, the syndrome was caused by mutations in this nucleus-encoded gene which deleteriously interacts with the mitochondrial genome. This is the first evidence of the implication of both genomes in a recessive disease.

References

Jun 1, 1977·Journal of Medical Genetics·F C Fraser, T Gunn
Jan 1, 1992·Journal of Inherited Metabolic Disease·S BundeyA R Fielder
Sep 15, 1990·Lancet·R G SwiftM Swift
Dec 11, 1990·Nucleic Acids Research·G A Cortopassi, N Arnheim
Mar 1, 1989·The Journal of Pediatrics·C Borgna-PignattiC Patrini
Jun 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·J Ott
Apr 9, 1981·Nature·S AndersonI G Young
Jun 1, 1994·Nature Genetics·G GyapayJ Weissenbach
Feb 1, 1995·Nature Genetics·A SuomalainenL Peltonen
Jul 1, 1994·Clinica Chimica Acta; International Journal of Clinical Chemistry·P RustinA Munnich
Jul 1, 1993·Psychiatry Research·M H PolymeropoulosC R Merril

❮ Previous
Next ❯

Citations

Aug 1, 1997·Comptes rendus de l'Académie des sciences. Série III, Sciences de la vie·P ReynierP Lestienne
Apr 23, 2003·The Journal of Molecular Diagnostics : JMD·Johannes M W van ven OuwelandLambert D Dikkeschei
Jul 1, 1997·Journal of Pediatric Hematology/oncology·K R Bridges
Oct 16, 2004·International Journal of Hematology·Muhammad AyyubB M Qazi
May 7, 2014·Revue neurologique·S LeruezD Milea
Feb 9, 2012·Documenta Ophthalmologica. Advances in Ophthalmology·Ewa Langwińska-WośkoKamil Szulborski
Mar 20, 1998·Annals of Neurology·J ArenasA Cabello
May 18, 2010·Survey of Ophthalmology·J Alexander FraserNancy J Newman
Dec 6, 2005·Annales de pathologie·J MikolP Massin
Jul 17, 2008·Human Mutation·Doron M BeharUNKNOWN Genographic Consortium
Mar 30, 2011·Annals of Neurology·Annabelle ChaussenotVéronique Paquis-Flucklinger
Aug 27, 2010·Clinical Genetics·L RigoliC Di Bella
Feb 5, 2000·Neurologic Clinics·J M Shoffner
Aug 9, 2005·American Journal of Ophthalmology·Nancy J Newman
Jun 12, 2013·Mitochondrion·Fred N Ross-CisnerosAlfredo A Sadun
Mar 17, 1999·Biochimica Et Biophysica Acta·J A Morgan-Hughes, M G Hanna
Jan 12, 2010·Cases Journal·Masoud Reza ManaviatSeyed Mohammad Mohammadi
Feb 13, 2001·Molecular Genetics and Metabolism·M Gómez-ZaeraV Nunes
Jul 28, 2004·Diabetes Care·Casey J A SmithRodney J Scott
May 26, 2016·European Journal of Human Genetics : EJHG·Mariya MoosajeeRichard Bowman
Mar 12, 2002·British Journal of Haematology·Thierry Alcindor, Kenneth R Bridges
Jun 27, 2000·Journal of Child Neurology·L T HaftelT Lerman-Sagie
Oct 2, 2001·American Journal of Medical Genetics·A Suomalainen, J Kaukonen
Dec 31, 1997·FEBS Letters·A M LezzaM N Gadaleta
Apr 24, 2001·Human Mutation·F KhanimT G Barrett
Nov 10, 2004·Eye·N J Newman, V Biousse
Apr 10, 1999·Clinical Otolaryngology and Allied Sciences·P D Fowler, N S Jones
Feb 8, 2006·Journal of Pediatric Endocrinology & Metabolism : JPEM·Fortunato LombardoFilippo De Luca
Apr 9, 2004·The Journal of Clinical Endocrinology and Metabolism·R MedlejG Halaby
Apr 12, 2000·Seminars in Ophthalmology·M T Yen, B L Lam
May 23, 2002·European Journal of Ophthalmology·M Al-TillK M Ajlouni
Feb 15, 2000·Annals of the New York Academy of Sciences·J M Shoffner
Mar 11, 2004·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·J Finsterer

❮ Previous
Next ❯

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