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Pregled bibliografske jedinice broj: 661491

Mutations in HNF1A result in marked alterations of plasma glycan profile.


Thanabalasingham, G.; Huffman, J.E.; Kattla, J.J.; Novokmet, Mislav; Rudan, Igor; Gloyn, A.L.; Hayward, C.; Adamczyk, B.; Reynolds, R.M.; Mužinić, Ana et al.
Mutations in HNF1A result in marked alterations of plasma glycan profile. // Diabetes (New York, N.Y.), 62 (2012), 4; 1329-1337 doi:10.2337/db12-0880 (međunarodna recenzija, članak, znanstveni)


Naslov
Mutations in HNF1A result in marked alterations of plasma glycan profile.

Autori
Thanabalasingham, G. ; Huffman, J.E. ; Kattla, J.J. ; Novokmet, Mislav ; Rudan, Igor ; Gloyn, A.L. ; Hayward, C. ; Adamczyk, B. ; Reynolds, R.M. ; Mužinić, Ana ; Hassanali, N. ; Pučić, Maja ; Bennett, A.J. ; Essafi, A. ; Polašek, Ozren ; Mughal, S.A. ; Redžić, Irma ; Primorac, Dragan ; Zgaga, Lina ; Kolčić, Ivana ; Hansen, T. ; Gasperikova, D. ; Tjora, E. ; Strachan, M.W. ; Nielsen, T. ; Stanik, Juraj ; Klimes, I. ; Pedersen, O.B. ; Njølstad, P.R. ; Wild, S.H. ; Gyllensten, U. ; Gornik, Olga ; Wilson, J.F. ; Hastie, N.D. ; Campbell, H. ; McCarthy, M.I. ; Rudd, P.M. ; Owen, K.R. ; Lauc, Gordan ; Wright, A.F.

Izvornik
Diabetes (New York, N.Y.) (0012-1797) 62 (2012), 4; 1329-1337

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Diabetes; MODY; glycosylation

Sažetak
A recent genome-wide association study identified hepatocyte nuclear factor 1-α (HNF1A) as a key regulator of fucosylation. We hypothesized that loss-of-function HNF1A mutations causal for maturity-onset diabetes of the young (MODY) would display altered fucosylation of N-linked glycans on plasma proteins and that glycan biomarkers could improve the efficiency of a diagnosis of HNF1A- MODY. In a pilot comparison of 33 subjects with HNF1A-MODY and 41 subjects with type 2 diabetes, 15 of 29 glycan measurements differed between the two groups. The DG9-glycan index, which is the ratio of fucosylated to nonfucosylated triantennary glycans, provided optimum discrimination in the pilot study and was examined further among additional subjects with HNF1A-MODY (n = 188), glucokinase (GCK)-MODY (n = 118), hepatocyte nuclear factor 4-α (HNF4A)-MODY (n = 40), type 1 diabetes (n = 98), type 2 diabetes (n = 167), and nondiabetic controls (n = 98). The DG9- glycan index was markedly lower in HNF1A-MODY than in controls or other diabetes subtypes, offered good discrimination between HNF1A-MODY and both type 1 and type 2 diabetes (C statistic ≥ 0.90), and enabled us to detect three previously undetected HNF1A mutations in patients with diabetes. In conclusion, glycan profiles are altered substantially in HNF1A-MODY, and the DG9-glycan index has potential clinical value as a diagnostic biomarker of HNF1A dysfunction.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti



POVEZANOST RADA


Projekt / tema
309-0061194-2023 - Glikoproteomika stresa i bolesti povezanih sa stresom (Gordan Lauc, )

Ustanove
Farmaceutsko-biokemijski fakultet, Zagreb,
Medicinski fakultet, Split,
Medicinski fakultet, Osijek,
GENOS d.o.o.

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE


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