Lipid profile in Noonan syndrome and related disorders: trend by age, sex and genotype.
BMI
Mazzanti syndrome
Noonan Syndrome
PTPN11
RASopathies
SHOC2
cholesterol
tryglicerides
Journal
Frontiers in endocrinology
ISSN: 1664-2392
Titre abrégé: Front Endocrinol (Lausanne)
Pays: Switzerland
ID NLM: 101555782
Informations de publication
Date de publication:
2023
2023
Historique:
received:
20
04
2023
accepted:
12
07
2023
medline:
18
8
2023
pubmed:
17
8
2023
entrez:
17
8
2023
Statut:
epublish
Résumé
RASopathies are developmental disorders caused by dysregulation of the RAS-MAPK signalling pathway, which contributes to the modulation of multiple extracellular signals, including hormones and growth factors regulating energetic metabolism, including lipid synthesis, storage, and degradation. We evaluated the body composition and lipid profiles of a single-centre cohort of 93 patients with a molecularly confirmed diagnosis of RASopathy by assessing height, BMI, and total cholesterol, HDL, triglycerides, apolipoprotein, fasting glucose, and insulin levels, in the context of a cross sectional and longitudinal study. We specifically investigated and compared anthropometric and haematochemistry data between the Noonan syndrome (NS) and Mazzanti syndrome (NS/LAH) groups. At the first evaluation (9.5 ± 6.2 years), reduced growth (-1.80 ± 1.07 DS) was associated with a slightly reduced BMI (-0.34 DS ± 1.15 DS). Lipid profiling documented low total cholesterol levels (< 5 The present findings document an unfavourable lipid profile in subjects with NS, in particular
Sections du résumé
Background
RASopathies are developmental disorders caused by dysregulation of the RAS-MAPK signalling pathway, which contributes to the modulation of multiple extracellular signals, including hormones and growth factors regulating energetic metabolism, including lipid synthesis, storage, and degradation.
Subjects and methods
We evaluated the body composition and lipid profiles of a single-centre cohort of 93 patients with a molecularly confirmed diagnosis of RASopathy by assessing height, BMI, and total cholesterol, HDL, triglycerides, apolipoprotein, fasting glucose, and insulin levels, in the context of a cross sectional and longitudinal study. We specifically investigated and compared anthropometric and haematochemistry data between the Noonan syndrome (NS) and Mazzanti syndrome (NS/LAH) groups.
Results
At the first evaluation (9.5 ± 6.2 years), reduced growth (-1.80 ± 1.07 DS) was associated with a slightly reduced BMI (-0.34 DS ± 1.15 DS). Lipid profiling documented low total cholesterol levels (< 5
Conclusion
The present findings document an unfavourable lipid profile in subjects with NS, in particular
Identifiants
pubmed: 37588986
doi: 10.3389/fendo.2023.1209339
pmc: PMC10425765
doi:
Substances chimiques
Apolipoprotein A-I
0
Glucose
IY9XDZ35W2
Cholesterol
97C5T2UQ7J
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1209339Informations de copyright
Copyright © 2023 Tamburrino, Mazzanti, Scarano, Gibertoni, Sirolli, Zioutas, Schiavariello, Perri, Mantovani, Rossi, Tartaglia and Pession.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Références
J Endocrinol Invest. 2006 Jul-Aug;29(7):581-93
pubmed: 16957405
Am J Med Genet A. 2016 Jun;170(6):1525-31
pubmed: 27038324
J Clin Invest. 2022 Apr 15;132(8):
pubmed: 35230976
Genet Med. 2012 Mar;14(3):285-92
pubmed: 22261753
Hum Mol Genet. 2022 Feb 21;31(4):561-575
pubmed: 34508588
Circulation. 2006 Sep 5;114(10):1056-62
pubmed: 16940191
Biochim Biophys Acta Bioenerg. 2018 Sep;1859(9):845-867
pubmed: 29750912
Clin Chem. 1972 Jun;18(6):499-502
pubmed: 4337382
Arch Dis Child. 1999 Jul;81(1):28-31
pubmed: 10373129
Am J Med Genet A. 2021 Mar;185(3):774-780
pubmed: 33382187
Endocr Rev. 2018 Oct 1;39(5):676-700
pubmed: 29924299
Eur J Med Genet. 2022 Mar;65(3):104439
pubmed: 35101635
Am J Med Genet A. 2012 Nov;158A(11):2700-6
pubmed: 22887833
Proc Natl Acad Sci U S A. 2014 Oct 21;111(42):E4494-503
pubmed: 25288766
Am J Med Genet A. 2015 Nov;167A(11):2786-94
pubmed: 26227443
Annu Rev Genomics Hum Genet. 2013;14:355-69
pubmed: 23875798
Ann N Y Acad Sci. 2010 Dec;1214:99-121
pubmed: 20958325