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Metabolism refers to a chain of chemical reactions converting food/fuel into energy to conduct cellular processes, including the synthesis of the building blocks of the body, such as proteins, lipids, nucleic acids, and carbohydrates, and the elimination of nitrogenous wastes. Metabolic chain reactions are catalyzed by various enzymes that are orchestrated in specific pathways. Metabolic pathways are important for organisms to grow and reproduce, maintain their structures, and respond to their environments. The coordinated regulation of metabolic pathways is important for maintaining metabolic homeostasis. The key steps and crucial enzymes in these pathways have been well investigated. However, the crucial regulatory factors and feedback (or feedforward) mechanisms of nutrients and intermediate metabolites of these biochemical processes remain to be fully elucidated. In addition, the roles of these enzymes and regulatory factors in controlling metabolism under physiological and pathological conditions are largely unknown. In particular, metabolic dysregulation is closely linked to the development of many diseases, including obesity, fatty liver, diabetes, cancer, cardiovascular, cerebrovascular, and neurodegenerative diseases. Therefore, metabolism, an old area of biochemistry, has attracted much attention in the last decade. With substantially increased government funding, the involvement of talented researchers, an improved infrastructure and scientific environment over the last ten years, the basic research in the field of metabolism in China has dramatically advanced. Here, we have summarized the major discoveries of scientists in China in the last decade in the area of metabolism. Due to the vast amount of information, we focused this review on specific aspects of metabolism, particularly metabolic regulation and lipid metabolism in vertebrates. © 2016 IUBMB Life, 68(11):847-853, 2016.

To identify the underlying genetic anomalies in two consanguineous Pakistani families with autosomal recessive achromatopsia.The exploratory study was conducted under the patronage of International Islamic University, Islamabad, Pakistan, and Sungshin Women University, Seoul, South Korea, after two families coded PKCN-02 and PKCN-07 belonging to different ethnic groups were recruited from different areas of Khyber Pakhtunkhawa province of Pakistan in July 2016. The families were originally diagnosed with nystagmus upon medical examination. Exome sequencing was performed to identify the possible causative gene which was found to be cyclic nucleotide-gated channel alpha-3. Sanger sequencing was performed to confirm the mutations. After genetic analysis, clinical analysis was re-evaluated for colour vision using Ishihara 26 plates. Pathogenic potential of these mutations was evaluated using algorithmic mutation prediction tools. In-silico analysis was performed to predict effect of these mutations on protein structure of the gene in question.Exome sequencing revealed a reported missense mutation c .1306CT (p.R436W) in family PKCN-02 and a novel missense mutation c.1540GA (p.D514N) in family PKCN-07. After mutational analysis, clinical re-evaluation revealed that both families were segregating autosomal recessive achromatopsia. Further, the topological model of the cyclic nucleotide-gated channel alpha-3 polypeptide describes these missense mutations primarily affecting the C-linker and cyclic guanosine monophosphate-binding sites, respectively. Protein structure modelling of cyclic nucleotide-gated channel alpha-3 protein revealed abnormal structure produced by p.R436W and p.D514N..Exome sequencing approach was used to first identify the genetic alteration in families with nystagmus. Two mutations in cyclic nucleotide-gated channel alpha-3gene were uncovered, including one novel mutation. Clinical re-evaluation uncovered that both families had achromatopsia.

Metabolism refers to a chain of chemical reactions converting food/fuel into energy to conduct cellular processes, including the synthesis of the building blocks of the body, such as proteins, lipids, nucleic acids, and carbohydrates, and the elimination of nitrogenous wastes. Metabolic chain reactions are catalyzed by various enzymes that are orchestrated in specific pathways. Metabolic pathways are important for organisms to grow and reproduce, maintain their structures, and respond to their environments. The coordinated regulation of metabolic pathways is important for maintaining metabolic homeostasis. The key steps and crucial enzymes in these pathways have been well investigated. However, the crucial regulatory factors and feedback (or feedforward) mechanisms of nutrients and intermediate metabolites of these biochemical processes remain to be fully elucidated. In addition, the roles of these enzymes and regulatory factors in controlling metabolism under physiological and pathological conditions are largely unknown. In particular, metabolic dysregulation is closely linked to the development of many diseases, including obesity, fatty liver, diabetes, cancer, cardiovascular, cerebrovascular, and neurodegenerative diseases. Therefore, metabolism, an old area of biochemistry, has attracted much attention in the last decade. With substantially increased government funding, the involvement of talented researchers, an improved infrastructure and scientific environment over the last ten years, the basic research in the field of metabolism in China has dramatically advanced. Here, we have summarized the major discoveries of scientists in China in the last decade in the area of metabolism. Due to the vast amount of information, we focused this review on specific aspects of metabolism, particularly metabolic regulation and lipid metabolism in vertebrates. © 2016 IUBMB Life, 68(11):847-853, 2016.