The genetic alterations of vitamin D receptor (VDR) are related with the growth of long bone. There were a lot of reports regarding an association of polymorphisms in the VDR promoter with many disorders, but not with idiopathic short stature (ISS). We investigated the association of them with ISS. A total of 50 subjects, including 29 ISS patients and 21 healthy controls with their heights within the normal range was recruited. We selected two single nucleotide polymorphisms (SNPs) from VDR promoter (rs11568820 at the Cdx-2 binding site upstream of exon 1e and rs4516035 at -1012 upstream of exon 1a) as candidates, respectively. In genotype analysis, the frequency of A/A genotype at the Cdx-2 binding site locus (rs11568820) upstream of exon 1e of VDR was decreased to 6.9% in ISS patients (28.6% in controls) (P = 0.027). The genetic variation at the Cdx-2 binding site of VDR promoter can be a contributing factor of growth of height.
Hereditary vitamin D resistant rickets (HVDRR) is a rare genetic disorder caused by a mutation of vitamin D receptor (VDR) gene. A number of cases had been reported in many countries but not in Korea. We examined a three-year old Korean girl who had the typical clinical features of HVDRR including rickets, hypocalcemia, hypophosphatemia, elevated serum calcitriol level and secondary hyperparathyroidism. The girl and her father were both heterozygous for the 719 C-to-T (I146T) mutation in exon 4, whereas she and her mother were both heterozygous for 754 C-to-T (R154C) mutation in exon 5 of the VDR gene. In this familial study, we concluded that the girl had compound heterozygous mutations in her VDR gene which caused HVDRR. This is the first report of a unique mutation in the VDR gene in Korea.
Darier's disease (DD, MIM 124200) is an autosomal dominant inherited disease. It is usually present in teenagers or adults with multiple keratotic papules or plaques in seborrheic areas. Pathogenic mutations in the ATP2A2 gene have been identified. It encodes the sarcoplasmic or endoplasmic reticulum Ca(2+) ATPase isoform 2 (SERCA2). Polymerase chain reaction and direct sequencing of the full coding sequence of ATP2A2 gene were performed to identify the mutation in this family. In this report, we identified a novel mutation of ATP2A2 gene in a Chinese family with DD. It is a novel heterozygous nucleotide G --> T transition at position 2,282 in exon 15 of the ATP2A2 gene. Our study expands the database on the ATP2A2 gene mutations in DD.
만 동시에 심장세포에 재관류 손상(reperfusion injury)을 일 으킨다. 1) 심근세포의 재산소화 시 활성산소(reactive oxygen species, ROS)가 저산소 기간보다 급격히 증가하며 2) 증가된 ROS는 세포내 Ca 2+ 의 과부하를 발생시키고, 3) 이것은 세포 자멸사(apoptosis) 또는 괴사성(necrosis) 세포사 과정을 발생 시킨다. 4) Propofol (2,6-diisopropylphenol)은 항산화제로 알려진 α-tocopherol 및 butylhydroxytoluene과 유사한 화학구조를 가지고 있으며, 같은 농도에서 더 나은 ROS 제거능력을 보인다. 5) 다 양한 조직의 재산소화 시 propofol의 항산화효과에 대한 많은 연구가 진행되었다. 쥐 심장조직의 재산소화 시 25, 50μM의 propofol은 ROS에 의해 촉발되는 지질과산화(lipid peroxidation) 과정을 억제하였고, 6) 쥐 뇌조직의 재산소화 시 50μM 이상이 되어야 지질과산화 과정이 억제되었다. 7) 반면 인간
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