The OMMBID Blog http://books.mcgraw-hill.com/medical/ommbid/blog This blog is intended to create discussion that leads to a better understanding of diseases of human mutation. Tue, 05 Jan 2010 16:53:11 +0000 http://wordpress.org/?v=2.0 en Treatment of Wilson disease with NaPB http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1307 http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1307#comments Tue, 05 Jan 2010 16:51:21 +0000 pcampeau Part 14: METALS Treatment http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1307 Chaperones such as phenylbutyrate and curcumin can be used to treat conditions with misfolded proteins such as ATP7 in Wilson Disease.

Hepatology. 2009 Dec;50(6):1783-95.
Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin.
van den Berghe PV, Stapelbroek JM, Krieger E, de Bie P, van de Graaf SF, de Groot RE, van Beurden E, Spijker E, Houwen RH, Berger R, Klomp LW.

Phenylbutyrate also has other pharmacological effects, such as HDAC inhibition,  ↓ stability of HSC70 mRNA leading to ↓ degradation of ΔF508 CFTR, ↑ PPARG activation, isoprenylation inhibition, and ↓ methylation. These properties render it an attractive compound for the treatment of other genetic conditions such as cystic fibrosis and thalassemias.

Philippe Campeau

]]> http://books.mcgraw-hill.com/medical/ommbid/blog/?feed=rss2&p=1307 SSIEM http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1306 http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1306#comments Tue, 05 Jan 2010 16:42:55 +0000 pcampeau Meetings http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1306 The 2010 SSIEM Annual Symposium will take place August 31 to September 3, 2010 in Istanbul.
Go to http://www.ssiem2010.org/ for more info.

Click this link to see the most recent online abstracts of major genetics journals.

Philippe Campeau

]]> http://books.mcgraw-hill.com/medical/ommbid/blog/?feed=rss2&p=1306 SIMD http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1305 http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1305#comments Tue, 05 Jan 2010 16:42:40 +0000 pcampeau Meetings http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1305 The 33rd SIMD Annual Meeting will take place in Albuquerque, New Mexico, March 28-April 1, 2010
Go to http://www.simd.org/Meetings/SIMD2010/ for more info.

Philippe Campeau

]]> http://books.mcgraw-hill.com/medical/ommbid/blog/?feed=rss2&p=1305 Succinate dehydrogenase and leukoencephalopathy http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1303 http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1303#comments Mon, 27 Jul 2009 11:41:20 +0000 pcampeau _ Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION Part 28: NEUROGENETICS http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1303 A gene encoding a protein essential for the assembly of succinate dehydrogenase has been implicated in an infantile leukoencephalopathy.

Nat Genet. 2009 May 24. [Epub ahead of print]

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy.

Ghezzi D et al.

Click this link to see the most recent online abstracts of major genetics journals.

Philippe Campeau

]]> http://books.mcgraw-hill.com/medical/ommbid/blog/?feed=rss2&p=1303 Mitochondrial carrier and sideroblastic anemia http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1302 http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1302#comments Mon, 27 Jul 2009 11:40:45 +0000 pcampeau _ Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION Part 13: PORPHYRINS Part 19: BLOOD http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1302 Nat Genet. 2009 Jun;41(6):651-3. Epub 2009 May 3.

Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia.

Guernsey DL et al.

These investigators form Nova Scotia describe a new form of sideroblastic anemia caused by a mutation in a mitochondrial carrier. The gene was identified by positional cloning.

Click this link to see the most recent online abstracts of major genetics journals.

Philippe Campeau

]]> http://books.mcgraw-hill.com/medical/ommbid/blog/?feed=rss2&p=1302 New cause of CoQ10 deficiency http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1301 http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1301#comments Mon, 27 Jul 2009 11:39:57 +0000 pcampeau _ Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1301 Am J Hum Genet. 2009 May;84(5):558-66. Epub 2009 Apr 16.

A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease.

Duncan AJ et al.

This group from the UK describes a new form of coQ10 deficiency, a potentially treatable condition.

Click this link to see the most recent online abstracts of major genetics journals.

Philippe Campeau

]]> http://books.mcgraw-hill.com/medical/ommbid/blog/?feed=rss2&p=1301 Cause of short stature in African Pygmies http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1298 http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1298#comments Mon, 08 Jun 2009 02:01:02 +0000 pcampeau _ http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1298 Molecular Genetics and Metabolism
Article in Press
The shortness of Pygmies is associated with severe under-expression of the Growth Hormone Receptor
Mauro Bozzola et al.

In this article, the authors observed a markedly reduced GHR gene expression in adult Pygmies, while the genetics cause for this remains to be uncovered.

Click this link to see the most recent online abstracts of major genetics journals.

Philippe Campeau

]]> http://books.mcgraw-hill.com/medical/ommbid/blog/?feed=rss2&p=1298 MPS VI gene therapy pre-clinical model http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1297 http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1297#comments Mon, 08 Jun 2009 01:56:49 +0000 pcampeau _ Treatment http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1297 Mol Genet Metab. 2009 Jun;97(2):102-8. Epub 2009 Feb 27.
Lentiviral-mediated correction of MPS VI cells and gene transfer to joint tissues.
Byers S, Rothe M, Lalic J, Koldej R, Anson DS.

In this publication, the authors use a lentivirus to tranduce human fibroblasts and chondrocytes, as well as the synovial membrane and the fascia in injected rat joints.

Click this link to see the most recent online abstracts of major genetics journals.

Philippe Campeau

]]> http://books.mcgraw-hill.com/medical/ommbid/blog/?feed=rss2&p=1297 ASHG http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1296 http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1296#comments Mon, 08 Jun 2009 01:52:06 +0000 pcampeau _ Meetings http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1296 The ASHG 2009 meeting will take place on Tuesday, October 20 to Saturday, October 24, 2009 in Honolulu, Hawaii at the Hawaii Convention Center.
http://www.ashg.org/2009meeting/

See you there,

Philippe Campeau

]]> http://books.mcgraw-hill.com/medical/ommbid/blog/?feed=rss2&p=1296 Deletions in OTC http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1295 http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1295#comments Sun, 22 Mar 2009 20:15:17 +0000 pcampeau Part 08: AMINO ACIDS http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1295 Mol Genet Metab. 2009 Mar;96(3):97-105. Epub 2009 Jan 12.
High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH.

Shchelochkov OA, Li FY, Geraghty MT, Gallagher RC, Van Hove JL, Lichter-Konecki U, Fernhoff PM, Copeland S, Reimschisel T, Cederbaum S, Lee B, Chinault AC, Wong  LJ.

http://www.ncbi.nlm.nih.gov/pubmed/19138872

This article highlights the importance of investigating for possible deletions when mutations are not found for genetic disorders.

Good reading,

Philippe Campeau

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