TRPV4 mutations identified in channelopathies
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Alterations
of TRPV4 are known to underlie a family of autosomal dominant skeletal
dysplasias. Now, three new studies identify TRPV4 mutations responsible for
Spinal Muscular Atrophy (also known as Charcot-Marie-Tooth disease Type 2C).
Mutations lead to altered ion channel activity.
Scapuloperoneal
spinal muscular atrophy and CMT2C are allelic disorders caused by alterations
in TRPV4
Han-Xiang Deng et al. Nat Genet. 2010 Feb;42(2):165-9 Abstract
Alterations in the ankyrin domain of TRPV4 cause congenital distal
SMA, scapuloperoneal SMA and HMSN2C
Michaela Auer-Grumbach et al. Nat Genet. 2010 Feb;42(2):160-4 Abstract
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C
Guida
Landouré et al. Nat Genet. 2010 Feb;42(2):170-4 Abstract
Critiques of these recent findings have been published:
Dominant
mutations in the cation channel gene transient receptor potential vanilloid 4
cause an unusual spectrum of neuropathies
Magdelena
Zimon et al. Brain. 2010 133:1798-1809 Abstract
Channelopathies converge on TRPV4
Nilius B. and Owsianik G. Nat Genet. 2010 Feb;42(2):98-100 Abstract
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Developing novel drugs by targeting TRP channels
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Now that the role of TRP channels is becoming clearer both
physiologically and pathologically, it is possible to contemplate targeting these channel proteins for drug development. Some recent reviews discuss the
possibilities.
Challenges
faced in choosing novel targets to treat chronic pain
DA Henze,
Future Med Chem 2009 1:231-235
Analgesic targets: today and tomorrow
Ian W Rodger Inflammopharmacology 2009 Jun;17(3):151-61 Abstract
Transient receptor potential channels: targeting pain at the
source
Patapoutian A, Tate S and Woolf CJ. Nat Rev Drug Discov. 2009 Jan;8(1):55-68 Abstract
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And now for something different.. snakes see infrared through TRP channels
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Snakes
use a unique sensory system for detecting infrared radiation enabling the
generation of a thermal image. This study identifies TRPA1 channels as the
infrared receptors on sensory nerve fibres that innervate the pit organ that snakes use to identify prey or predators.
Molecular basis of
infrared detection by snakes.
Gracheva EO
et al. Nature. 2010 Apr 15;464(7291):1006-11 PMID: 20228791 Abstract
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Quality sensory antibodies available from Biosensis
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Detection of capsaicin receptor in small neurons in rat dorsal root
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shows a high specific stain with little background.
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Until next time, good luck with your research.
Sincerely,
Tina
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