Document Detail


Anderson's disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities.
MedLine Citation:
PMID:  18786134     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Anderson's disease (AD) or chylomicron retention disease (CMRD) is a rare hereditary lipid malabsorption syndrome linked to SARA2 gene mutations. We report in this study a novel mutation in two sisters for which the Sar1b protein is predicted to be truncated by 32 amino acids at its carboxyl-terminus. Because the SARA2 gene is also expressed in the muscle, heart, liver and placenta, extraintestinal clinical manifestations may exist. For the first time, we describe in this study in the two sisters muscular as well as cardiac abnormalities that could be related to the reported expression of SARA2 in these tissues. We also evaluated six other patients for potential manifestations of the SARA2 mutation. The creatine phosphokinase levels were increased in all patients [1.5-9.4 x normal (N)] and transaminases were moderately elevated in five of the eight patients (1.2-2.6 x N), probably related to muscle disease rather than to liver dysfunction. A decreased ejection fraction occurred in one patient (40%, N: 60%). The muscle, liver and placental tissues that were examined had no specific abnormalities and, in particular, no lipid accumulation. These results suggest that myolysis and other extraintestinal abnormalities can occur in AD/CMRD and that the clinical evaluation of patients should reflect this.
Authors:
M Silvain; D Bligny; T Aparicio; P Laforêt; A Grodet; N Peretti; D Ménard; F Djouadi; C Jardel; J M Bégué; F Walker; J Schmitz; A Lachaux; L P Aggerbeck; M E Samson-Bouma
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Publication Detail:
Type:  Journal Article     Date:  2008-09-11
Journal Detail:
Title:  Clinical genetics     Volume:  74     ISSN:  1399-0004     ISO Abbreviation:  Clin. Genet.     Publication Date:  2008 Dec 
Date Detail:
Created Date:  2008-11-28     Completed Date:  2009-02-04     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  Denmark    
Other Details:
Languages:  eng     Pagination:  546-52     Citation Subset:  IM    
Affiliation:
CNRS, Centre de Génétique Moléculaire, UPR2167, Gif-sur-Yvette, France.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Female
Heart Defects, Congenital / etiology*
Humans
Malabsorption Syndromes / complications*,  genetics*
Male
Monomeric GTP-Binding Proteins / genetics*
Muscles / abnormalities*,  pathology
Mutation*
Young Adult
Chemical
Reg. No./Substance:
EC 3.6.1.-/SAR1B protein, human; EC 3.6.5.2/Monomeric GTP-Binding Proteins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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