Imperial College London
Alternate

Professor Mark Isalan - Deputy Head of Department

Faculty of Natural Sciences, Department of Life Sciences

Professor of Synthetic Biology
 
 
 
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Contact

 

+44 (0)20 7594 6482m.isalan

 
 
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Location

 

509Sir Alexander Fleming BuildingSouth Kensington Campus

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Summary

 

Publications

Citation

BibTex format

@article{Mielcarek:2017:10.3389/fphys.2017.00127,
author = {Mielcarek, M and Smolenski, RT and Isalan, M},
doi = {10.3389/fphys.2017.00127},
journal = {Frontiers in Physiology},
title = {Transcriptional signature of an altered purine metabolism in the skeletal muscle of a Huntington’s disease mouse model},
url = {http://dx.doi.org/10.3389/fphys.2017.00127},
volume = {8},
year = {2017}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Huntington’s disease (HD) is a fatal neurodegenerative disorder,caused  by  a  polyglutamine expansion  in the huntingtin protein (HTT).HD has a peripheral component to its pathology:  skeletal musclesare severely affected, leading to atrophy and malfunction in both pre-clinical and clinical settings. We previously used two symptomatic HD mouse models to demonstrate the impairment  of  the contractile  characteristics  of  the  hind  limb  muscles, which  was accompanied by a significant loss of function of motor units. The mice displayed a significant reduction  in  muscle force, likely because of deteriorationsin  energy  metabolism, decreased oxidation  and  altered  purine  metabolism. There  is  growing  evidence  suggesting  that  HD-related  skeletal  muscle  malfunction  might  be  partially  or  completely  independent  of  CNS degeneration.  The pathology  might  arise  from  mutant  HTT within muscle  (loss  or  gain of function).  Hence,  it  is  vital  to  identify  novel  peripheral  biomarkers  that  will  reflect  HD skeletal  muscle atrophy. These will  be  important for upcoming clinical trials that may target HD peripherally. In order to identify potential biomarkers that might reflect muscle metabolic changes, we used qPCR to  validate  key  gene  transcripts in  different  skeletal  muscle  types. Consequently, we  report a number  of  transcript alterations that  are  linked  to HD  muscle pathology.
AU  - Mielcarek,M
AU  - Smolenski,RT
AU  - Isalan,M
DO  - 10.3389/fphys.2017.00127
PY  - 2017///
SN  - 1664-042X
TI  - Transcriptional signature of an altered purine metabolism in the skeletal muscle of a Huntington’s disease mouse model
T2  - Frontiers in Physiology
UR  - http://dx.doi.org/10.3389/fphys.2017.00127
UR  - http://hdl.handle.net/10044/1/44817
VL  - 8
ER  -
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