圈养黑长尾猴（绿猴）患白内障时的非酮症高甘氨酸血症

Nonketotic hyperglycinemia in captive-bred Vervet monkeys (Chlorocebus aethiops) with cataracts.

作者信息

Khoza Sanele, Ngqaneka Thobile, Magwebu Zandisiwe Emilia, Chauke Chesa Gift

机构信息

Primate Unit and Delft Animal Centre (PUDAC), South African Medical Research Council, Cape Town, South Africa.

出版信息

J Med Primatol. 2019 Jun;48(3):161-165. doi: 10.1111/jmp.12400. Epub 2019 Feb 6.

DOI:10.1111/jmp.12400

PMID:30724368

Abstract

BACKGROUND

Nonketotic hyperglycinemia (NKH) is a rare metabolic disorder that is characterized by high levels of glycine in plasma and cerebrospinal fluid in humans. In this study, total congenital cataract captive-bred Vervet monkeys (Chlorocebus aethiops) that are hyperglycinemic were screened to identify mutations in Bola type 3 (BOLA3), glutaredoxin 5 (GLRX5), and lipoate synthase (LIAS) genes.

METHODS

Twenty-four Vervet monkeys (12 hyperglycinemic and 12 healthy controls) were selected for mutation analysis using polymerase chain reaction (PCR), Sanger sequencing, and reverse transcriptase-polymerase chain reaction (RT-PCR).

RESULTS

Novel sequence variants were identified in BOLA3 (R23H and Q38R) and LIAS (R369I and A371A), and gene expression in the control group was significantly lower compared to the hyperglycinemic group (P < 0.05).

CONCLUSION

The data obtained from this study will contribute to generation of new knowledge regarding the involvement of these genes in NKH development.

摘要

背景

非酮症高甘氨酸血症（NKH）是一种罕见的代谢紊乱疾病，其特征是人类血浆和脑脊液中甘氨酸水平升高。在本研究中，对患有高甘氨酸血症的圈养繁殖的先天性白内障绿猴（Chlorocebus aethiops）进行筛查，以鉴定博拉3型（BOLA3）、谷氧还蛋白5（GLRX5）和硫辛酸合成酶（LIAS）基因中的突变。