SORL1

From Wikipedia, the free encyclopedia

sortilin-related receptor, L(DLR class) A repeats-containing
Identifiers
Symbol SORL1
Entrez 6653
HUGO 11185
OMIM 602005
RefSeq NM_003105
UniProt Q92673
Other data
Locus Chr. 11 q23.2-24.4

SORL1 (also known as SORLA, SORLA1, or LR11) is a neuronal apolipoprotein E receptor, the gene for which is predominantly expressed in the central nervous system[1].

Contents

[edit] Connection with Alzheimer's disease

Mutation of the gene for apolipoprotein E (APOE) is predictive of Alzheimer's disease[2]. Lack of the APOE receptor is suspected to be a contributory factor to Alzheimer's: a significant reduction in SORL1 (LR11) expression has been found in brain tissue of Alzheimer's disease patients[3]. The APOE receptor has also been linked with regulation of amyloid precursor protein, faulty processing of which is implicated in Alzheimer's[4]. A more recent study by a group of international researchers [5] supports the proposition that SORL1 plays a part in seniors developing Alzheimer's disease, the findings being significant across racial and ethnic strata[6].

[edit] See also

[edit] External links

[edit] References

  1. ^ SORL1 sortilin-related receptor, L(DLR class) A repeats-containing [ Homo sapiens ]. Entrez Gene. United States National Center for Biotechnology Information (10 January 2007). Retrieved on 2007-01-15.
  2. ^ Wade, Nicholas. "Study Detects a Gene Linked to Alzheimer’s", The New York Times, 15 January 2007. Retrieved on 2007-01-15. 
  3. ^ Scherzer CR, Offe K, Gearing M, Rees HD, Fang G, Heilman CJ, Schaller C, Bujo H, Levey AI, Lah JJ (2004). "Loss of apolipoprotein E receptor LR11 in Alzheimer disease". Arch Neurol. 61(8):1200-5. PMID 15313836. 
  4. ^ Andersen OM, Reiche J, Schmidt V, Gotthardt M, Spoelgen R, Behlke J, von Arnim CA, Breiderhoff T, Jansen P, Wu X, Bales KR, Cappai R, Masters CL, Gliemann J, Mufson EJ, Hyman BT, Paul SM, Nykjaer A, Willnow TE (2005). "Neuronal sorting protein-related receptor sorLA/LR11 regulates processing of the amyloid precursor protein". Proc Natl Acad Sci 102(38):13461-6. PMID 16174740. 
  5. ^ Rogaeva, Ekaterina; Meng, Yan; Lee, Joseph H; Gu, Yongjun; Kawarai, Toshitaka; Zou, Fanggeng; Katayama, Taiichi; Baldwin, Clinton T; Cheng, Rong; Hasegawa, Hiroshi; Chen, Fusheng; Shibata, Nobuto; Lunetta, Kathryn L; Pardossi-Piquard, Raphaelle; Bohm, Christopher; Wakutani, Yosuke; Cupples, L Adrienne; Cuenco, Karen T; Green, Robert C; Pinessi, Lorenzo; Rainero, Innocenzo; Sorbi, Sandro; Bruni, Amalia; Duara, Ranjan; Friedland, Robert P; Inzelberg, Rivka; Hampe, Wolfgang; Bujo, Hideaki; Song, You-Qiang; Andersen, Olav M; Willnow, Thomas E; Graff-Radford, Neill; Petersen, Ronald C; Dickson, Dennis; Der, Sandy D; Fraser, Paul E; Schmitt-Ulms, Gerold; Younkin, Steven; Mayeux, Richard; Farrer, Lindsay A; St George-Hyslop, Peter. (14 January 2007). "The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease" ([dead link] – Scholar search). Nature Genetics. doi:10.1038/ng1943.  Advance online publication; Volume/Issue/Page available later
  6. ^ Hall, Joseph. "Canadian-led team links gene to Alzheimer's", Toronto Star, 15 January 2007. Retrieved on 2007-01-15.