Document Detail

NOLA1 gene mutations in acquired aplastic anemia.
MedLine Citation:
PMID:  18989882     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Telomerase complex genes mutations (DKC1, TERC, TERT, and NOP10) lead to premature telomere shortening and are responsible for different forms of dyskeratosis congenita. TERC and TERT mutations were also found in patients with aplastic anemia. The aim of this work is to analyze the possible involvement of the telomerase complex gene NOLA1, in a population of Italian AA patients.
PROCEDURE: DNA of 108 AA patients and 170 normal controls was amplified by PCR and analyzed by DHPLC. For each abnormal elution profile PCR products was directly sequenced using ABI prism 3100 Genetic Analyzer.
RESULTS: We identified, in two patients and two control, the new c.390A > T variation, which is not reported in GenBank, and leads to p.H28L amino acidic change. Telomere analysis shows that the subjects carrying the change have a telomere length comparable to that of healthy controls thus suggesting that this variation has no effect on telomerase complex activity.
CONCLUSIONS: We did not find any clear disruptive mutation in NOLA1 gene. The non-conservative variation identified in our sample has no effect on telomeres length. This result suggests that heterozygous point mutations in NOLA1 gene are not responsible for AA in our patients at least acting via telomere. However, in our experience, molecular analysis of other telomerase complex gene (TERC, TERT) is important for AA patients and family members in order to set up an adequate therapeutic or surveillance program and identify carriers or exclude them as potential bone marrow donors.
Simona Pigullo; Elisa Pavesi; Irma Dianzani; Giuseppe Santamaria; Johanna Svahn; Marco Risso; Maria Teresa Van Lint; Marta Pillon; A P Iori; Daniela Longoni; Ugo Ramenghi; Marina Lanciotti; Carlo Dufour
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Pediatric blood & cancer     Volume:  52     ISSN:  1545-5017     ISO Abbreviation:  Pediatr Blood Cancer     Publication Date:  2009 Mar 
Date Detail:
Created Date:  2009-01-15     Completed Date:  2009-01-30     Revised Date:  2011-10-14    
Medline Journal Info:
Nlm Unique ID:  101186624     Medline TA:  Pediatr Blood Cancer     Country:  United States    
Other Details:
Languages:  eng     Pagination:  376-8     Citation Subset:  IM    
Hematology Unit, G. Gaslini Children Hospital, Genova, Italy.
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MeSH Terms
Anemia, Aplastic / genetics,  metabolism*
Child, Preschool
Middle Aged
Mutation / genetics
Polymorphism, Genetic / genetics
Ribonucleoproteins, Small Nucleolar / genetics,  metabolism*
Reg. No./Substance:
0/GAR1 protein, human; 0/Ribonucleoproteins, Small Nucleolar
Comment In:
Pediatr Blood Cancer. 2009 May;52(5):687   [PMID:  19090550 ]

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

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