Intranasal ERT in LSDs may bypass BBB

• May 13th, 2012

According to the study by Wolf et al. intranasal administration of α-l-iduronidase (IDUA) enzyme may be able to bypass the blood-brain barrier. This appears to be the case in IDUA-deficient mice after a single intranasal treatment with concentrated Aldurazyme®. Promising results in mice were also noted after intranasal treatment with an adeno-associated virus (AAV) vector expressing human IDUA. These experiments raise the possibility of non-invasive treatments for lysosomal storage disorders.

Lysosomal enzyme can bypass the blood-brain barrier and reach the CNS following intranasal administration. Wolf et al. Mol Genet Metab. 2012 May;106(1):131-4. PMID: 22420937 http://dx.doi.org/10.1016/j.ymgme.2012.02.006

posted by Yannis Trakadis MD, MSc

Lysosomal Storage Disorders and calcium handling

• August 20th, 2011

Several lysosomal storage disorders are characterized by aberrant calcium handling in affected cells (reviewed in Kiselyov et al, 2010, Cell Calcium 47:103-11). Increasing ER calcium stabilizes several lysosomal enzymes. It was shown that the chaperone calnexin significantly contributes to this phenomenon for glucocerebrosidase (Ong et al, 2010, Nat Chem Biol 6:424-32).

For more info on Gaucher disease, check out the OMMBID abstract here:

http://dx.doi.org/10.1036/ommbid.176

For other LSDs click here.

Posted by Philippe Campeau, MD

ERT for late-onset Pompe disease

• April 28th, 2010

van der Ploeg AT et al. A randomized study of alglucosidase alfa in late-onset Pompe’s disease. N Engl J Med. 2010 Apr 15;362(15):1396-406

In this study, alglucosidase alfa resulted in improved walking distance and stabilization of pulmonary function for patients with late-onset Pompe’s disease.

posted by Philippe Campeau

Mouse model for mucolipidosis II.

• December 8th, 2007

Invest Ophthalmol Vis Sci. 2007 Nov;48(11):5221-8.

Mice lacking alpha/beta subunits of GlcNAc-1-phosphotransferase exhibit growth
retardation, retinal degeneration, and secretory cell lesions.

Gelfman CM, Vogel P, Issa TM, Turner CA, Lee WS, Kornfeld S, Rice DS.
In this paper, the authors describe a mouse model for mucolipidosis II. The mice have severe retinal degeneration, in addition to being smaller, having elevated levels of serum lysosomal enzymes, exhibiting cartilage defect and cytoplasmic alterations in secretory cells of several exocrine glands.

 
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Click this link to see the most recent online abstracts of major genetics journals.
Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

Gene therapy to prevent immune response to enzyme replacement therapy

• October 14th, 2007

Enhanced Response to Enzyme Replacement Therapy in Pompe Disease after the Induction of Immune Tolerance
Baodong Sun, Andrew Bird, Sarah P. Young, Priya S. Kishnani, Y.-T. Chen, and Dwight D. Koeberl
Am. J. Hum. Genet., 81:1042-1049, 2007

In this puplication, investigators from Duke University administered an AAV encoding alpha-glucosidase(GAA) to GAA-knockout mice. This prevented the antibody response to subsequently administered enzyme replacement therapy.

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Click this link to see the most recent online abstracts of major genetics journals.
Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

Urinary screening for Fabry disease

• December 28th, 2006

Screening for Fabry disease on urine collected by filter paper might eventually become a reality with the method referred to in this short report:

Development of a filter paper method potentially applicable to mass and high-risk urinary screenings for Fabry disease

C. Auray-Blais, D. Cyr, K. Mills, R. Giguère and R. Drouin

J Inherit Metab Dis, January 2007

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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C)

• November 12th, 2006

MPS IIIC was the only mucopolysaccharidosis for which the gene had not been cloned. This is no longer the case thanks to the recent identification of the causal gene by a group from Toronto, Canada.
Am J Hum Genet. 2006 Oct;79(4):738-44. Epub 2006 Aug 23.

Identification of the gene encoding the enzyme deficient in
mucopolysaccharidosis IIIC (Sanfilippo disease type C).

Fan X, Zhang H, Zhang S, Bagshaw RD, Tropak MB, Callahan JW, Mahuran DJ.

For more information on mucopolysaccharidoses, please see chapter 136 of OMMBID.
Thank you very much in advance for your contributions to this blog (Click on login to register and post a message).

Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening

• August 13th, 2006

Am. J. Hum. Genet., 79:000, 2006

High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening
Marco Spada, Severo Pagliardini, Makiko Yasuda, Turgut Tukel, Geetha Thiagarajan, Hitoshi Sakuraba, Alberto Ponzone, and Robert J. Desnick
In this article, alpha-galactosidase A activity was assayed in newborn screening blood spots of Italian male neonates. This study revealed a high incidence of later-onset Fabry disease.

For more information on Fabry disease, see chapter 150 of OMMBID.
Thank you very much in advance for your contributions to this blog (Click on login to register and post a message).

Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

Lysosomal Disease Network 3rd Annual Scientific WORLD symposium

• May 28th, 2006

Posted on behalf of Dr Chester B. Whitley:

Lysosomal Disease Network 3rd Annual Scientific WORLD Symposium 2006
December 7-9, 2006
(Abstract deadline: July 1, 2006)
Location
Contemporary Resort at Walt Disney World, Orlando, Florida

Call to make your hotel reservations: 407-824-3869. Be sure to mention the Lysosomal Disease Network WORLD Symposium for your discounted room rate.

Online Abstract Submission Deadline is July 1, 2006
Abstract submission is now open! Please go to www.LysosomalDiseaseNetwork.org.

Registration is now open!
Please go to www.LysosomalDiseaseNetwork.org or call 800-776-8636 or 612-626-7600 to register.

Overview

The goal of the Lysosomal Disease Network annual symposium is to provide an interdisciplinary forum to explore and discuss specific areas of interest related to lysosomal diseases.

Participants

The symposium is appropriate for clinicians, geneticists and genetic counselors, neurologists and neuropsychologists, researchers, nurses and other health care professionals as well as patients and families, patient/family support organizations and industry professionals.

Disease Focus

Batten disease / Fabry disease / Gaucher disease / Leukodystrophies / Mucolipidosis / Mucopolysaccharidosis / Oligosaccharidosis / Pompe disease

Accreditation

The Lysosomal Disease Network is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians. An application for credit has been filed and final determination of credit is pending.

The Final Program with accepted platform and posters titles, and a detailed agenda, will be available this summer.

Download the brochure (pdf)

Mucolipidosis II and mucolipidosis IIIA gene

• April 30th, 2006

Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical
pseudo-hurler polydystrophy) are caused by mutations in the
GlcNAc-phosphotransferase alpha / beta -subunits precursor gene.

Kudo M, Brem MS, Canfield WM

Am J Hum Genet. 2006 Mar;78(3):451-63.

For more information on Mucolipidosis II and mucolipidosis IIIA, please visit OMMBID Chapter 138.

Thank you very much in advance for your contributions to this blog.

Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator