人類錳-過氧化物歧化酵素基因多型性之臨床意義的評估
Date Issued
2004
Date
2004
Author(s)
嚴崇仁
DOI
912314B002346
Abstract
Free radicals can attack macromolecules in the body and may contribute to the
development of long-term complications of diabetes mellitus. Several reports have shown
that mutations of mitochondrial DNA are associated with the susceptibility of diabetes
mellitus. Type II superoxide dismutase or Mn-superoxide dismutase (Mn-SOD) is encoded
in nuclear DNA and it is, then, sent into mitochondria for metabolizing superoxide. If there
is an Mn-SOD gene mutation, the metabolism of free radicals may change and the risk of
mitochondrial DNA and proteins damage by free radicals may increase, which may lead to
increased susceptibility to diabetes mellitus. Therefore, Mn-SOD gene may be a potential
candidate gene for diabetes mellitus and its complications. Previous studies had found an
Ala-9Val polymorphism (T to C change in nucleotide) in the mitochondrial targeting
sequence of human Mn-SOD. The polymorphism may affect its effective transport to
mitochondria and ability to metabolize free radicals. To determine the clinical significance
of the polymorphism, we performed this study.
We first recruited 104 healthy volunteers with different genotypes (27 CT and 77 TT
cases) to observe the difference of chemiluminescence released from leukocytes in high
glucose state (25mM). There was no statistical difference in chemiluminescence (or
oxidative stress) between the CT and TT group. Then, another 4 groups of volunteers were
enrolled, including 309 normal controls, 248 nondiabetic uremic subjects, 57 diabetics
without apparent complications and 114 patients of diabetic nephropathy in end-stage renal
disease. The distribution of CC/CT and TT genotypes was not statistically different among
the 4 groups. Therefore, Ala-9Val polymorphism in Mn-SOD gene probably does not
contribute to the increased susceptibility of diabetes or diabetic nephropathy.
Subjects
superoxide dismutase
diabetes mellitus
mitochondria
SDGs
Publisher
臺北市：國立臺灣大學醫學院內科
Type
report
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