Although the three missense mutations in GCNT2 have a benign effect, a possibility exists that the candidate genes (GCNT2, HSF4 and CRYAA) might harbour mutations that are responsible for total congenital cataract.
Although deleterious effects of the three amino acid substitutions were not evaluated, one substitution of GLDC gene (S44R) could be disease-causing because of its drastic amino acid change, affecting amino acids conserved in different primate species. This study confirms the diagnosis of NKH for the first time in vervet monkeys with cataracts.
Advances in molecular techniques have shown that genetic factors predispose individuals to cardiovascular diseases (CVD). These techniques have made it possible to identify disease-causing genes, prediction to disease susceptibility and responsiveness to drug interventions. For the purpose of this review, therapeutic intervention (niacin) was conducted in a nonhuman primate model to assess the impact of six coincident single nucleotide polymorphisms (cSNP) identiied in prioritised reverse cholesterol transport (RCT) and high-density lipoprotein (HDL) metabolism genes. Gene expression indings conirmed that these genetic variants may have a direct impact on the RCT pathway and drug intervention (niacin) response.
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.
K E Y W O R D SBOLA3, GLRX5, glycine cleavage system, LIAS, nonhuman primate
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