dc.contributor.author |
Hosszúfalusi, Nóra |
|
dc.contributor.author |
Karcagi, Veronika |
|
dc.contributor.author |
Horvath R |
|
dc.contributor.author |
Palik, Éva |
|
dc.contributor.author |
Várkonyi, Judit |
|
dc.contributor.author |
Rajczy K |
|
dc.contributor.author |
Prohászka, Zoltán |
|
dc.contributor.author |
Szentirmai C |
|
dc.contributor.author |
Karádi, István |
|
dc.contributor.author |
Romics, László |
|
dc.contributor.author |
Pánczél, Pál |
|
dc.date.accessioned |
2018-10-08T10:02:05Z |
|
dc.date.available |
2018-10-08T10:02:05Z |
|
dc.date.issued |
2009 |
|
dc.identifier |
65549148928 |
|
dc.identifier.citation |
pagination=127-135;
journalVolume=25;
journalIssueNumber=2;
journalTitle=DIABETES-METABOLISM RESEARCH AND REVIEWS; |
|
dc.identifier.uri |
http://repo.lib.semmelweis.hu//handle/123456789/6385 |
|
dc.identifier.uri |
doi:10.1002/dmrr.841 |
|
dc.description.abstract |
BACKGROUND: This article presents a clinically characterization of the
mitochondrial DNA mutation (A3243G) associated with maternally inherited diabetes
and deafness (MIDD) syndrome in two families. METHODS: Six patients with MIDD and
one mutation-positive relative with normal glucose tolerance (NGT) were examined.
Fasting serum C-peptide was measured in all subjects and compared with controls
having NGT (n = 14). C-peptide response to an intravenous glucose tolerance test
(IVGTT) was investigated in the diabetic patients not treated with insulin (n =
3) and in the mutation-positive healthy individual and compared with the
controls. RESULTS: The A3243G heteroplasmy value varied between 5 and 30%. All
A3243G carriers had HLA-DR1-DQ5 haplotype, and either the -DQ5 or the -DQ6
allele. The fasting and the serum C-peptide levels at 120 min during the IVGTT
did not differ between the A3243G carriers and the controls. A missing first
phase and a decreased total C-peptide response was detected in the
mutation-positive diabetics compared with controls (p < 0.0001). The same
abnormality was found in the A3243G carrier with NGT. Circulating islet cell
antibody (ICA) was present in three patients with MIDD. Glutamic acid
decarboxylase (GAD), tyrosine phosphatase-like protein IA-2 (IA-2) and
mitochondrial antibodies were missing. The diagnosis of MIDD was delayed in each
case. CONCLUSIONS: A missing first phase and a decreased total C-peptide response
during an IVGTT was characteristic for the A3243G mutation. The fasting C-peptide
level of the carriers did not differ from the controls. Circulating ICA was
present in some patients, but GAD, IA-2 and mitochondrial antibodies were absent.
All subjects had HLA-DR1-DQ5 haplotype, and either -DQ5 or -DQ6 alleles. |
|
dc.relation.ispartof |
urn:issn:1520-7552 |
|
dc.title |
A detailed investigation of maternally inherited diabetes and deafness (MIDD) including clinical characteristics, C-peptide secretion, HLA-DR and -DQ status and autoantibody pattern |
|
dc.type |
Journal Article |
|
dc.date.updated |
2018-09-02T10:13:28Z |
|
dc.language.rfc3066 |
en |
|
dc.identifier.mtmt |
1233481 |
|
dc.identifier.wos |
000264000200003 |
|
dc.identifier.pubmed |
19116951 |
|
dc.contributor.department |
SE/AOK/K/III. Sz. Belgyógyászati Klinika |
|
dc.contributor.department |
SE/AOK/K/I. Sz. Gyermekgyógyászati Klinika |
|
dc.contributor.institution |
Semmelweis Egyetem |
|