Alström Syndrome Patient Registry and Phenotype Database
ASI holds the largest collection of essential information about children and adults with Alström Syndrome, with data about more than 900 individuals. If you are treating a patient with Alström Syndrome and wish to participate in this ongoing research effort, please contact:
Alström Syndrome International
251 SW Wilshire Blvd #124-304
Burleson, TX 76028 USA
1-888-745-8356
in**@al*****.org
Mouse models for Alström Syndrome exhibit most of the characteristics seen in human patients with Alström Syndrome, including vision and hearing impairment and obesity.
Marshall JD, Maffei P, Collin GB, Naggert JK (2011). Current Genomics 12 (3): 225-235.
Legry V, Van Rooyen DM, Lambert B, Sempoux C, Poekes L, Español-Suñer R, Molendi-Coste O, Horsmans Y, Farrell GC, Leclercq IA. Endoplasmic reticulum stress does not contribute to steatohepatitis in obese and insulin resistant high-fat diet fed foz/foz mice. Clin Sci (Lond). 2014 Apr 25. [Epub ahead of print]
Larter CZ, Yeh MM, Haigh WG, Van Rooyen DM, Brooling J, Heydet D, Nolan CJ, Teoh NC, Farrell GC. Dietary modification dampens liver inflammation and fibrosis in obesity-related fatty liver disease.
Obesity (Silver Spring). 2013 Jun;21(6):1189-99. doi: 10.1002/oby.20123. Epub 2013 May 10.
Larter CZ, Yeh MM, Van Rooyen DM, Brooling J, Ghatora K, Farrell GC.
J Gastroenterol Hepatol. 2012 Feb;27(2):341-50. doi: 10.1111/j.1440-1746.2011.06939.x.
Collin GB, Cyr E, Bronson R, Marshall JD, Gifford EJ, Hicks W, Murray SA, Zheng QY, Smith RS, Nishina PM, Naggert JK. (2005):Alms1-disrupted mice recapitulate human Alström syndrome. Hum Mol Genet.14(16):2323-33.
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 (2006): Fat aussie–a new Alström syndrome mouse showing a critical role for ALMS1 in obesity, diabetes, and spermatogenesis. Mol Endocrinol. 20(7):1610-22.
Arsov T, Larter CZ, Nolan CJ, Petrovsky N, Goodnow CC, Teoh NC, Yeh MM, Farrell GC. (2006): Adaptive failure to high-fat diet characterizes steatohepatitis in Alms1 mutant mice. Biochem Biophys Res Commun. 342(4):1152-9.
ALMS1 Gene and Mechanism Studies
Favaretto F, Milan G, Collin GB, Marshall JD, Stasi F, Maffei P, Vettor R, Naggert JK. (2014): GLUT4 Defects in Adipose Tissue Are Early Signs of Metabolic Alterations in Alms1GT/GT, a Mouse Model for Obesity and Insulin Resistance.
PLoS One. 2014 Oct 9;9(10):e109540. doi: 10.1371/journal.pone.0109540. eCollection 2014.
Collin GB, Marshall JD, King BL, Milan G, Maffei P, Jagger DJ, Naggert JK. (2012): The Alström Syndrome Protein, ALMS1, Interacts with α-Actinin and Components of the Endosome Recycling Pathway. PLoS One. 7(5):e37925. Epub 2012 May 31.
Zulato E, Favaretto F, Veronese C, Campanaro S, Marshall JD, Romano S, Cabrelle A, Collin GB, Zavan B, Belloni AS, Rampazzo E, Naggert JK, Abatangelo G, Sicolo N, Maffei P, Milan G, Vettor R.(2011): ALMS1-deficient fibroblasts over-express extra-cellular matrix components, display cell cycle delay and are resistant to apoptosis. PLoS One. Apr 26;6(4):e19081.
Pereiro I, Hoskins BE, Marshall JD, Collin GB, Naggert JK, Piñeiro-Gallego T, Oitmaa E, Katsanis N, Valverde D, Beales PL (2011): Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome. Eur J Hum Genet.19(4):485-8.
Marshall JD, Hinman EG, Collin GB, Beck S, Cerqueira R, Maffei P, Milan G, Zhang W, Wilson DI, Hearn T, Tavares P, Vettor R, Veronese C, Martin M, So WV, Nishina PM, Naggert JK.Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome. Hum Mutat. 28(11):1114-23.
Romano S, Milan G, Veronese C, Collin GB, Marshall JD, Centobene C, Favaretto F, Dal Pra C, Scarda A, Leandri S, Naggert JK, Maffei P, Vettor R. (2008)Regulation of Alström syndrome gene expression during adipogenesis and its relationship with fat cell insulin sensitivity. Int J Mol Med. 21(6):731-6.
Collin GB, Marshall JD, Ikeda A, So WV, Russell-Eggitt I, Maffei P, Beck S, Boerkoel CF, Sicolo N, Martin M, Nishina PM, Naggert JK (2002): Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome. Nature Genetics 31(1): 74-78.
Hearn T, Renforth GL, Spalluto C, Hanley NA, Piper K, Brickwood S, White C, Connolly V, Taylor JFN, Russell-Eggitt I, Bonneau D, Walker M, Wilson DI (2002): Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. Nature Genetics 31 (1): 79-83.
Marshall JD, Hinman EG, Collin GB, Beck S, Cerqueira R, Maffei P, Milan G, Zhang W, Wilson DI, Hearn T, Tavares P, Vettor R, Veronese C, Martin M, So WV, Nishina PM, Naggert JK. (2007) Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alstrom syndrome. Hum Mutat. 28(11):1114-1123.
Jagger D, Collin G, Kelly J, Towers E, Nevill G, Longo-Guess C, Benson J, Halsey K, Dolan D, Marshall J, Naggert J, Forge A. (2011) Alstrom Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity. Hum Mol Genet. 20(3):466-81.
Spalluto C, Wilson DI, Hearn T. (2012): Nek2 localises to the distal portion of the mother centriole/basal body and is required for timely cilium disassembly at the G2/M transition. Eur J Cell Biol. 91(9):675-86.
Li G, Vega R, Nelms K, Gekakis N, Goodnow C, McNamara P, Wu H, Hong NA, Glynne R. (2007): A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence. PLoS Genet. 3(1):e8.
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