Cilia, Alström syndrome--molecular mechanisms and therapeutic perspectives

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. Alström syndrome (OMIM 203800) first described in...

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Published inJournal of medicine and life Vol. 1; no. 3; pp. 254 - 261
Main Authors Mihai, Cristina Maria, Catrinoiu, Doina, Marshall, Jan, Stoicescu, Ramona, Tofolean, Ioan Tiberiu
Format Journal Article
LanguageEnglish
Published Romania Carol Davila University Press 01.07.2008
Subjects
Abnormalities, Multiple - genetics
Adult
Alstrom Syndrome - diagnosis
Alstrom Syndrome - drug therapy
Alstrom Syndrome - 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
Reviews
Treatment Outcome
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Summary: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. Alström 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 Alström syndrome include obesity, insulin resistance, and type 2 diabetes. About 500 individuals with Alström 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.
ISSN:1844-122X
1844-3117