| Cilia, Alstr?m syndrome--molecular mechanisms and therapeutic perspectives. | |
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MedLine Citation:
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PMID: 20108502 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Over the past ten years, several studies demonstrated the connections between cilia, basal bodies and human diseases with a wide phenotypic spectrum, including randomization of body symmetry, obesity, cystic kidney diseases and retinal degeneration. Alstr?m syndrome (OMIM 203800) first described in 1959, is a rare autosomal recessive disorder caused by mutations in a novel gene of unknown function, ALMS1, located on the short arm of chromosome 2. Central features of Alstr?m syndrome include obesity, insulin resistance, and type 2 diabetes. About 500 individuals with Alstr?m syndrome are known worldwide. ALMS1 is widely expressed and localizes to centrosomes and to the base of cilia. We discuss the possible molecular mechanisms, clinical features, and future therapeutic options in a patient diagnosed with this rare disease. Monogenic defects causing human obesity actually disrupt hypothalamic pathways with a profound effect on satiety and food intake. A potential contributor to obesity- cilia with impaired function or abnormal structure, creates a new link to be studied in the future, between these organelles and the genetics of obesity. |
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Authors:
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Cristina Maria Mihai; Doina Catrinoiu; Jan Marshall; Ramona Stoicescu; Ioan Tiberiu Tofolean |
Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: Journal of medicine and life Volume: 1 ISSN: 1844-122X ISO Abbreviation: J Med Life Publication Date: 2008 Jul-Sep |
Date Detail:
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Created Date: 2010-01-29 Completed Date: 2010-03-02 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101477617 Medline TA: J Med Life Country: Romania |
Other Details:
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Languages: eng Pagination: 254-61 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, "Ovidius" University, Faculty of Medicine, 124 Mamaia Blvd., 900527 Constanta, Romania. cristinamaria_mihai@hotmail.com |
| Data Bank Information | |
Bank Name/Acc. No.:
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OMIM/203800 |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics Adult Alstrom Syndrome / diagnosis, drug therapy, genetics* Blindness / genetics Body Mass Index Chromosomes, Human, Pair 2 / genetics Cilia / genetics Diabetes Mellitus, Type 2 / genetics Female Genetic Markers / genetics Genotype Hearing Loss / genetics Human Growth Hormone / therapeutic use Humans Insulin Resistance / genetics Mutation Obesity / genetics Phenotype Proteins / genetics* Retinitis Pigmentosa / genetics Treatment Outcome |
| Chemical | |
Reg. No./Substance:
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0/ALMS1 protein, human; 0/Genetic Markers; 0/Proteins; 12629-01-5/Human Growth Hormone |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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