Homozygosity of the Z-2 polymorphic variant in the aldose reductase gene promoter confers increased risk for neuropathy in children and adolescents with Type 1 diabetes

Επιστημονική δημοσίευση - Άρθρο Περιοδικού uoadl:3032886 17 Αναγνώσεις

Μονάδα:
Ερευνητικό υλικό ΕΚΠΑ
Τίτλος:
Homozygosity of the Z-2 polymorphic variant in the aldose reductase gene
promoter confers increased risk for neuropathy in children and
adolescents with Type 1 diabetes
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Background Diabetic neuropathy (DN) is the least recognized complication
of diabetes mellitus and may start early in the course of the disease.
Aldose reductase (AKR1B1) gene promoter Z-2/Z-2 polymorphism increases
the expression of AKR1B1 enzyme and may contribute to DN. Subjects We
evaluated 108 Type 1 diabetes (T1D) children and adolescents (mean +/-
SD age: 13.5 +/- 3.46 years, disease duration: 5.3 +/- 3.4 years) and
150 healthy controls (age: 11.9 +/- 2.7 years). Methods In both groups,
pupillary dilation (PD) in darkness, postural blood pressure test
(PBPT), and vibration sensation thresholds (VST) in upper and lower
limbs were estimated as indices of autonomic and peripheral neuropathy,
respectively. Nerve conduction studies (NCS) were performed in patients
as peripheral neuropathy index. The polymorphisms of AKR1B1 gene were
evaluated using microsatellite (AC)n sequence Z. Results PBPT, PD, and
VST impairments were more frequent in patient group compared with
controls, while 38.6% of patients exhibited NCS abnormality. Gender,
age, pubertal status, height, body mass index, diabetes duration, HbA1c,
and anti-GAD titers were associated with neuropathy indices in patients.
There was a strong correlation between PD and NCS in patients, while
homozygous patients for Z-2 AKR1B1 gene polymorphism had higher
prevalence of abnormal NCS (83.3% vs. 34.6%), PD (62.5% vs. 31.5%),
and PBPT values compared with heterozygous or negative patients.
Homozygous AKR1B1 status predicted PD, NCS, and PBPT variance, while PD,
VST, NCS, and PBPT parameters accurately discriminated homozygous AKR1B1
patients. Conclusions Impaired indices of peripheral and autonomic DN
were present in a significant proportion of young T1D patients. PD, VST,
NCS, and PBPT parameters were simultaneously associated with homozygous
state of AKR1B1 Z-2 gene polymorphism, implicating polyol metabolism
with both autonomic and peripheral neuropathies.
Έτος δημοσίευσης:
2022
Συγγραφείς:
Kallinikou, Dimitra
Tsentidis, Charalampos
Kekou, Kyriaki and
Katsalouli, Marina
Louraki, Maria
Kanaka-Gantenbein, Christina
and Kanavakis, Emmanouil
Karavanaki, Kyriaki
Περιοδικό:
Pediatric Diabetes
Εκδότης:
Wiley
Τόμος:
23
Αριθμός / τεύχος:
1
Σελίδες:
104-114
Λέξεις-κλειδιά:
autonomous; neuropathy; peripheral; Type 1 diabetes
Επίσημο URL (Εκδότης):
DOI:
10.1111/pedi.13285
Το ψηφιακό υλικό του τεκμηρίου δεν είναι διαθέσιμο.