Document Detail

Cilia, Alstr?m syndrome--molecular mechanisms and therapeutic perspectives.
MedLine Citation:
PMID:  20108502     Owner:  NLM     Status:  MEDLINE    
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.
Cristina Maria Mihai; Doina Catrinoiu; Jan Marshall; Ramona Stoicescu; Ioan Tiberiu Tofolean
Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Journal of medicine and life     Volume:  1     ISSN:  1844-122X     ISO Abbreviation:  J Med Life     Publication Date:    2008 Jul-Sep
Date Detail:
Created Date:  2010-01-29     Completed Date:  2010-03-02     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101477617     Medline TA:  J Med Life     Country:  Romania    
Other Details:
Languages:  eng     Pagination:  254-61     Citation Subset:  IM    
Department of Pediatrics, "Ovidius" University, Faculty of Medicine, 124 Mamaia Blvd., 900527 Constanta, Romania.
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MeSH Terms
Abnormalities, Multiple / genetics
Alstrom Syndrome / diagnosis,  drug therapy,  genetics*
Blindness / genetics
Body Mass Index
Chromosomes, Human, Pair 2 / genetics
Cilia / genetics
Diabetes Mellitus, Type 2 / genetics
Genetic Markers / genetics
Hearing Loss / genetics
Human Growth Hormone / therapeutic use
Insulin Resistance / genetics
Obesity / genetics
Proteins / genetics*
Retinitis Pigmentosa / genetics
Treatment Outcome
Reg. No./Substance:
0/ALMS1 protein, human; 0/Genetic Markers; 0/Proteins; 12629-01-5/Human Growth Hormone

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