Mitochondrial processes are impaired in hereditary inclusion body myopathy

Human Molecular Genetics
Iris EisenbergStella Mitrani-Rosenbaum

Abstract

Hereditary inclusion body myopathy (HIBM) is an adult onset, slowly progressive distal and proximal myopathy. Although the causing gene, GNE, encodes for a key enzyme in the biosynthesis of sialic acid, its primary function in HIBM remains unknown. To elucidate the pathological mechanisms leading from the mutated GNE to the HIBM phenotype, we attempted to identify and characterize early occurring downstream events by analyzing the genomic expression patterns of muscle specimens from 10 HIBM patients carrying the M712T Persian Jewish founder mutation and presenting mild histological changes, compared with 10 healthy matched control individuals, using GeneChip expression microarrays. When analyzing the expression profile data sets by the intersection of three statistic methods (Student's t-test, TNoM and Info score), we found that the HIBM-specific transcriptome consists of 374 differentially expressed genes. The specificity of the HIBM transcriptome was assessed by the minimal transcript overlap found between HIBM and the transcriptome of nine additional muscle disorders including adult onset limb girdle myopathies, inflammatory myopathies and early onset conditions. A strikingly high proportion (18.6%) of the overall differenti...Continue Reading

References

Apr 1, 1984·Journal of the Neurological Sciences·Z Argov, R Yarom
Jul 1, 1981·Journal of the Neurological Sciences·I NonakaE Satoyoshi
Aug 26, 1998·Proceedings of the National Academy of Sciences of the United States of America·J W AdamsG W Dorn
Nov 13, 1998·Current Opinion in Rheumatology·Z ArgovS Mitrani-Rosenbaum
Dec 9, 1998·Proceedings of the National Academy of Sciences of the United States of America·M B EisenD Botstein
May 21, 1999·Science·O T KepplerM Pawlita
Oct 12, 2000·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·M R RippoR Testi
Dec 7, 2000·Journal of Computational Biology : a Journal of Computational Molecular Cell Biology·A Ben-DorZ Yakhini
May 2, 2001·Nature Reviews. Genetics·J SmeitinkS DiMauro
Aug 3, 2001·The EMBO Journal·P Pacher, G Hajnóczky
Aug 2, 2002·American Journal of Respiratory Cell and Molecular Biology·Naftali Kaminski, Nir Friedman
Oct 23, 2002·Neurology·S A GreenbergA A Amato
Nov 5, 2002·Proceedings of the National Academy of Sciences of the United States of America·Judith N HaslettLouis M Kunkel
Jan 18, 2003·Biochimica Et Biophysica Acta·Florence Malisan, Roberto Testi
Apr 5, 2003·Proceedings of the National Academy of Sciences of the United States of America·Despina SanoudouAlan H Beggs
Sep 25, 2003·The Journal of Biological Chemistry·Niall J LennonRobert H Brown
Oct 2, 2003·Current Opinion in Cell Biology·John B Lowe
Oct 2, 2003·Human Molecular Genetics·Sara T WinokurKevin M Flanigan
Sep 30, 2004·Glycoconjugate Journal·Albert MoralesJosé C Fernandez-Checa
Jan 14, 2005·American Journal of Physiology. Cell Physiology·Werner J H KoopmanPeter H G M Willems
Jan 27, 2005·Biochemical and Biophysical Research Communications·Ilan SalamaStella Mitrani-Rosenbaum
Jan 29, 2005·Current Neurology and Neuroscience Reports·Ikuya NonakaIchizo Nishino
Feb 8, 2005·Neuromuscular Disorders : NMD·Aldobrando BroccoliniMassimiliano Mirabella
May 20, 2005·American Journal of Physiology. Cell Physiology·Werner J H KoopmanPeter H G M Willems
Jul 15, 2005·Glycobiology·Ajit Varki, Takashi Angata
Jul 16, 2005·Proceedings of the National Academy of Sciences of the United States of America·Jun YoshiokaRichard T Lee
Sep 2, 2005·Nature·Steve E CalvanoUNKNOWN Inflamm and Host Response to Injury Large Scale Collab. Res. Program
Dec 13, 2005·Cytometry. Part a : the Journal of the International Society for Analytical Cytology·Werner J H KoopmanPeter H G M Willems
Jan 25, 2006·Neurology·A OldforsC Lindberg
Apr 13, 2007·American Journal of Physiology. Cell Physiology·Werner J H KoopmanPeter H G M Willems
May 1, 2007·Cardiovascular Research·Mikael SchneiderSøren P Sheikh

❮ Previous
Next ❯

Citations

Feb 19, 2002·Journal of Applied Microbiology·M Martinez-CanameroJ M Arias
Feb 10, 2011·PloS One·Ilan SelaStella Mitrani-Rosenbaum
Dec 12, 2012·Bioinformatics and Biology Insights·Priscilla Rajadurai, Swamynathan Sankaranarayanan
Feb 4, 2014·Human Molecular Genetics·Alon DayaStella Mitrani-Rosenbaum
Dec 18, 2013·Seminars in Pediatric Neurology·Christos D KatsetosJoseph J Melvin
Jan 2, 2016·Biochimica Et Biophysica Acta·Anke P WillemsDirk J Lefeber
Aug 26, 2009·The International Journal of Biochemistry & Cell Biology·Robert W Gilkerson
Aug 26, 2009·The International Journal of Biochemistry & Cell Biology·Peter H G M WillemsWerner J H Koopman
Jul 21, 2009·Muscle & Nerve·Aldobrando BroccoliniMassimiliano Mirabella
Dec 17, 2014·Journal of Receptor and Signal Transduction Research·Avi HaraziStella Mitrani-Rosenbaum
May 16, 2015·Molecular Neurobiology·Reema Singh, Ranjana Arya
Jul 15, 2009·Biochimica Et Biophysica Acta·Marjan Huizing, Donna M Krasnewich
Mar 3, 2015·Frontiers in Aging Neuroscience·Sabine Krause
Mar 27, 2016·Journal of Neurochemistry·Balaraju SunithaMuchukunte Mukunda Srinivas Bharath
Jul 22, 2018·Nature Communications·E M TankS J Barmada
Oct 31, 2018·Frontiers in Neuroscience·Shreedarshanee DeviRanjana Arya
Mar 8, 2019·Neurology. Genetics·Oksana PogoryelovaHanns Lochmüller
May 11, 2018·Scientific Reports·Reema SinghRanjana Arya
Jan 28, 2020·Journal of Neuromuscular Diseases·Hadar BenyaminiStella Mitrani-Rosenbaum
May 4, 2018·Orphanet Journal of Rare Diseases·Oksana PogoryelovaAndreas Roos
Oct 9, 2020·Journal of Muscle Research and Cell Motility·Kapila AwasthiAlok Bhattacharya
Dec 17, 2009·Current Opinion in Rheumatology

❮ 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.