Transcriptome level analysis in Rett syndrome using human samples from different tissues

Orphanet Journal of Rare Diseases
Stephen Shovlin, Daniela Tropea

Abstract

The mechanisms of neuro-genetic disorders have been mostly investigated in the brain, however, for some pathologies, transcriptomic analysis in multiple tissues represent an opportunity and a challenge to understand the consequences of the genetic mutation. This is the case for Rett Syndrome (RTT): a neurodevelopmental disorder predominantly affecting females that is characterised by a loss of purposeful movements and language accompanied by gait abnormalities and hand stereotypies. Although the genetic aetiology is largely associated to Methyl CpG binding protein 2 (MECP2) mutations, linking the pathophysiology of RTT and its clinical symptoms to direct molecular mechanisms has been difficult.One approach used to study the consequences of MECP2 dysfunction in patients, is to perform transcriptomic analysis in tissues derived from RTT patients or Induced Pluripotent Stem cells. The growing affordability and efficiency of this approach has led to a far greater understanding of the complexities of RTT syndrome but is also raised questions about previously held convictions such as the regulatory role of MECP2, the effects of different molecular mechanisms in different tissues and role of X Chromosome Inactivation in RTT.In this re...Continue Reading

References

Apr 1, 1991·Journal of Child Neurology·S B Coker, A R Melnyk
Jan 1, 1989·American Journal of Medical Genetics·O Eeg-OlofssonM M al-Essa
Jan 1, 1986·American Journal of Medical Genetics. Supplement·K Jellinger, F Seitelberger
Feb 1, 1988·American Journal of Medical Genetics·J M PapadimitriouC L Masters
Aug 1, 1993·Annals of Neurology·A L ReissH Moser
Jan 1, 1996·Molecular and Cellular Biology·X NanA Bird
Nov 24, 1998·Journal of Neuropathology and Experimental Neurology·D D ArmstrongB Antalffy
Apr 20, 1999·Pediatric Neurology·M M JanK E Gordon
Apr 29, 1999·Proceedings of the National Academy of Sciences of the United States of America·L A EspositoD C Wallace
Aug 10, 2000·European Journal of Biochemistry·J B SchulzJ Dichgans
Sep 27, 2000·Human Molecular Genetics·J DragichC Schanen
Jul 12, 2002·Mental Retardation and Developmental Disabilities Research Reviews·Bengt Hagberg
Aug 30, 2003·Nature Neuroscience·Mollie K MeffertDavid Baltimore
Jan 20, 2004·Journal of Medical Genetics·L ColvinJ Christodoulou
Jan 20, 2004·Glia·Nicholas J MaragakisJeffrey D Rothstein
Apr 2, 2004·American Journal of Medical Genetics. Part a·Carolyn SchanenAlan Percy
Apr 29, 2005·Journal of Neurochemistry·Z XieT E Morgan
Sep 15, 2005·Neurochemistry International·Tapio NuutinenAntero Salminen
Jun 20, 2006·Molecular and Cellular Biology·Skirmantas KriaucionisAdrian Bird
Dec 11, 2007·AJNR. American Journal of Neuroradiology·J C CarterW E Kaufmann
Jan 5, 2008·Journal of Child Neurology·Alan K PercyPatrick MacLeod
Jul 5, 2008·Nature Protocols·In-Hyun ParkGeorge Q Daley
Feb 24, 2009·Nature Neuroscience·Nurit BallasGail Mandel
Apr 17, 2009·Human Molecular Genetics·Shay Ben-ShacharHuda Y Zoghbi
Apr 24, 2009·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Izumi MaezawaLee-Way Jin
May 26, 2009·Free Radical Biology & Medicine·Claudio De FeliceJoussef Hayek
Apr 16, 2010·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Izumi Maezawa, Lee-Way Jin
Jul 14, 2010·Cytogenetic and Genome Research·L A KifayathullahA U Mannan
Jul 21, 2010·Nature·K KimG Q Daley
Dec 15, 2010·Annals of Neurology·Jeffrey L NeulUNKNOWN RettSearch Consortium

❮ Previous
Next ❯

Citations

May 29, 2020·Molecular Autism·Suzy Varderidou-MinasianVivi M Heine
Mar 9, 2019·Frontiers in Genetics·Ryan A MillerMartina Kutmon
Nov 8, 2020·Annals of Neurology·Ryan S DhindsaDavid B Goldstein
May 1, 2021·International Journal of Molecular Sciences·Cinzia SignoriniClaudio De Felice

❮ Previous
Next ❯

Methods Mentioned

BETA
RNA-Seq
chips
Knockout
transgenic

Clinical Trials Mentioned

NCT01822249
NCT02696044
NCT01777542
NCT01703533

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.