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Nonketotic hyperglycinemia in captive‐bred Vervet monkeys ( Chlorocebus aethiops ) with cataracts
Author(s) -
Khoza Sanele,
Ngqaneka Thobile,
Magwebu Zandisiwe Emilia,
Chauke Chesa Gift
Publication year - 2019
Publication title -
journal of medical primatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.31
H-Index - 42
eISSN - 1600-0684
pISSN - 0047-2565
DOI - 10.1111/jmp.12400
Subject(s) - biology , polymerase chain reaction , vervet monkey , gene , sanger sequencing , genetics , hyperglycinemia , microbiology and biotechnology , african green monkey , virology , mutation , zoology , glycine , virus , amino acid
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 ( BOLA 3 ), glutaredoxin 5 ( GLRX 5 ), 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 BOLA 3 (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.