Neurologic dysfunction and male infertility in Drosophila porin mutants: a new model for mitochondrial dysfunction and disease

The Journal of Biological Chemistry
Brett H GrahamW J Craigen


Voltage-dependent anion channels (VDACs) are a family of small pore-forming proteins of the mitochondrial outer membrane found in all eukaryotes. VDACs play an important role in the regulated flux of metabolites between the cytosolic and mitochondrial compartments, and three distinct mammalian isoforms have been identified. Animal and cell culture experiments suggest that the various isoforms act in disparate roles such as apoptosis, synaptic plasticity, learning, muscle bioenergetics, and reproduction. In Drosophila melanogaster, porin is the ubiquitously expressed VDAC isoform. Through imprecise excision of a P element insertion in the porin locus, a series of hypomorphic alleles have been isolated, and analyses of flies homozygous for these mutant alleles reveal phenotypes remarkably reminiscent of mouse VDAC mutants. These include partial lethality, defects of mitochondrial respiration, abnormal muscle mitochondrial morphology, synaptic dysfunction, and male infertility, which are features often observed in human mitochondrial disorders. Furthermore, the observed synaptic dysfunction at the neuromuscular junction in porin mutants is associated with a paucity of mitochondria in presynaptic termini. The similarity of VDAC mut...Continue Reading


Mar 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·M Ramaswami, M A Tanouye
Nov 15, 1971·JAMA : the Journal of the American Medical Association·Seymour Benzer
Jul 18, 1995·Proceedings of the National Academy of Sciences of the United States of America·E YehG L Boulianne
Jan 1, 1993·Critical Reviews in Biochemistry and Molecular Biology·M C Sorgato, O Moran
May 1, 1996·Pediatric Research·M HuizingL P van den Heuvel
Nov 8, 1996·The Journal of Biological Chemistry·T Rostovtseva, Marco Colombini
Jul 25, 1997·The Journal of Biological Chemistry·M J SampsonW J Craigen
Oct 22, 1998·European Journal of Human Genetics : EJHG·Z RahmaniA Siddiqui
Feb 11, 2000·Journal of Neurophysiology·D Kuebler, M A Tanouye
Aug 17, 2001·The Journal of Biological Chemistry·M J SampsonW J Craigen
Mar 22, 2002·The Journal of Biological Chemistry·Edwin J WeeberW J Craigen
Sep 27, 2002·Genesis : the Journal of Genetics and Development·Lori HrdlickaNorbert Perrimon
Mar 19, 2003·Proceedings of the National Academy of Sciences of the United States of America·Jessica C GreeneLeo J Pallanck
Jul 26, 2003·Science·Emily H Y ChengStanley J Korsmeyer
Nov 19, 2003·Neuron·Patrik VerstrekenHugo J Bellen
Dec 26, 2003·Biophysical Journal·Alexander G KomarovMarco Colombini
Feb 13, 2004·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Scott B MarrusAaron DiAntonio
Jul 2, 2004·Proceedings of the National Academy of Sciences of the United States of America·David W Walker, Seymour Benzer
Jul 29, 2004·Journal of Neurobiology·Nick TrottaKendal Broadie
Jun 16, 2006·Biochemical and Biophysical Research Communications·Francesca GuarinoVito De Pinto
Jul 21, 2006·Proceedings of the National Academy of Sciences of the United States of America·Yang XuMichael Schlame
Jan 9, 2007·Biochimica Et Biophysica Acta·Keltoum Anflous-PharayraW J Craigen
Apr 18, 2007·The Biological Bulletin·James Jiayuan Tong


Sep 18, 2012·Chemical Reviews·Marco Colombini
Oct 16, 2010·PloS One·Jeehye ParkJongkyeong Chung
Mar 20, 2013·The Journal of Cell Biology·Ke ZhangHugo J Bellen
May 18, 2010·Neurobiology of Disease·Michael J Palladino
Sep 8, 2010·Developmental Disabilities Research Reviews·Shane L ReaMarni J Falk
Nov 5, 2011·Biochimica Et Biophysica Acta·Adithya RaghavanW J Craigen
Aug 1, 2015·Genes to Cells : Devoted to Molecular & Cellular Mechanisms·Takayuki UozumiTakaaki Hirotsu
Feb 11, 2015·The International Journal of Biochemistry & Cell Biology·Sarah ForielJulien Beyrath
Apr 28, 2020·Critical Reviews in Biotechnology·Poonam KanwarGirdhar K Pandey
Jan 14, 2012·PLoS Genetics·Sven VilainPatrik Verstreken
Nov 25, 2016·Journal of Biomedical Science·P Githure M'Angale, Brian E Staveley
May 20, 2020·Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids·Guzalia F ZakyrjanovaAlexey M Petrov

Related Concepts

Drosophila melanogaster
Respiratory Chain
Subfertility, Male
Nervous System Disorder
Pore Proteins
Oxidative Phosphorylation Deficiencies

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