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Alström Syndrome Research
It is difficult to say what is impossible,
for the dreams of yesterday
are the hopes of today
and the reality
of tomorrow.
Robert H. Goddard
Researchers create Mouse models for Alstrom Syndrome
Scientists at The Jackson Laboratory recently published a characterization of the first Alstrom Syndrome mouse model. This model exhibits most of the characteristics seen in human patients with Alstrom Syndrome, including vision and hearing impairment and obesity.
Alms1-disrupted mice recapitulate human Alstrom syndrome.
Collin GB, Cyr E, Bronson R, Marshall JD, Gifford EJ, Hicks W, Murray SA, Zheng QY, Smith RS, Nishina PM, Naggert JK.
Human Molecular Genetics 2005; 14(16):2323-33
Recently, a group from the University of Australia Canberra described another mouse model for Alstrom Syndrome. Fat Aussie – A New Alstrom Syndrome Mouse Showing a Critical Role for ALMS1 in Obesity, Diabetes and Spermatogenesis
Arsov T, Silva DG, O'bryan MK, Sainsbury A, Lee NJ, Kennedy C, Manji SS, Nelms K, Liu C, Vinuesa CG, de Kretser DM, Goodnow CC, Petrovsky N. Molecular Endocrinology 2006:
Adaptive failure to high-fat diet characterizes steatohepatitis in Alms1 mutant mice. Arsov T, Larter CZ, Nolan CJ, Petrovsky N, Goodnow CC, Teoh NC, Yeh MM, Farrell GC.
Biochem Biophys Res Commun. 2006 Apr 21;342(4):1152-9.
Alström Syndrome Gene Identified 2002
The Jackson Laboratory and the University of Southampton were able to announce in back to back publications in Nature Genetics that the ALMS1 gene responsible for Alström Syndrome has been identified.
The gene, known as ALMS1, is an entirely new gene, never before seen. The ALMS1 gene can be altered (mutated) in many different ways. The most common gene "mistake" involves a single changed base in the DNA - a misspelling. Other alterations include the loss or gain of a base. In some patients long segments of DNA are added or disappear.
It is important to realize that although the ALMS1 gene has been discovered, and specific mutations are being found, what this gene does to cause such a trouble in Alström patients is still a mystery. Therefore, unfortunately the gene discovery does not immediately suggest a treatment or cure for the disease. However, when the function is understood, new insights will be gained that will undoubtedly be crucial for understanding and treatment of Alström syndrome.
The two genetics laboratories, as well as others from around the world, are continuing to collaborate and as research progresses, updates will be posted.
BSTRACTS FROM SCIENTIFIC CONFERENCES
- Abstracts from the Alström Syndrome International Scientific Workshop, August 2001
- First International Alström Syndrome Medical and Scientific Conference - July, 1999
- Alström Syndrome Research from TJL's 1997 Annual Report
RESEARCH INSTITUTES AND MEDICAL CENTERS
 The Jackson Laboratory, Bar Harbor, ME, USA
University School of Medicine, Padua, Italy
The University of Southampton, Southampton, UK
The Hospital for Sick Children, Toronto, ON, Canada
Great Ormand Street Hospital for Children, London, England
Torbay Hospital, Torquay, South Devon, UK
Birmingham Children's Hospital, Birmingham, UK
Sahlgrenska University Hospital, Gothenburg, Sweden
IURC, Molecular Endocrinology, Montpellier, France
Saint James University Hospital, Leeds, England
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