Amplification of real-time high resolution melting analysis PCR method for polycystic kidney disease (PKD) gene mutations in autosomal dominant polycystic kidney disease patients

PKD1 and PKD2 are the two genes responsible for the development of autosomal dominant polycystic kidney disease (ADPKD). PKD1 gene mutations accounts for ≈85% of all ADPKD cases, while the remaining ≈15% of cases is caused by mutations in the PKD2 gene. Genotyping for PKD1 and PKD2 mutations was usually identified using conventional polymerase chain reaction (PCR) or PCR-single stranded conformation polymorphisms (SSCP) methods. In this study, we assessed the usefulness of eight common primers amplifying the respective genes in real-time high resolution melting analysis PCR (real-time HRMA PCR) in terms of time, cost and sensitivity with respect to PCR-SSCP method. We found that case sample can easily be differentiated from control sample by melting curve profile difference, although a primer was found to be less useful. We concluded that real-time HRMA PCR is a rapid and sensitive method to categorize samples based on the melting curve profiles with comparable sensitivity to conventional PCR-SSCP.Key words: Autosomal dominant polycystic kidney disease (ADPKD), real-time PCR, high resolution melting analysis, PKD1, PKD2

ROLE OF THE CYP1A2 GENE POLYMORPHISM ON EARLY AGEING FROM OCCUPATIONAL EXPOSURE

The ageing process is influenced by many internal and external factors. The toxic substances in the environment can cause genomic damages to cells, which increase the risk of early ageing. Furthermore, the cytochrome P450 1A2 (CYP1A2) gene polymorphism is a susceptibility factor and may enhance the risk of DNA damage in cells. The current study was carried out to show whether occupational exposure could cause genotoxicity in cells carrying the CYP1A2 gene polymorphism, thus enhancing the likelihood of early ageing. This study was conducted on mechanical workshop workers and a control group by collecting buccal cells from their mouths. Restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR) was used to identify the CYP1A2 gene polymorphism in the cells. In addition, three extra methods including micronuclei (MN) test, comet assay and real-time PCR (RT-PCR) were applied to determine the effects of gene polymorphisms on DNA damage and ageing from occupational exposure. The results showed that DNA damage in the cells carrying the mutated genotype was higher than the wild genotype. In addition, the difference in MN frequency (p = 0.001) and relative telomere length (p = 0.002) between workers and controls was significant (p 0.05). It was concluded that the CYP1A2 gene could be a contributing factor to prevent early ageing from occupational exposure

Mild cognitive impairment and its management in older people

Sima Ataollahi Eshkoor, Tengku Aizan Hamid, Chan Yoke Mun, Chee Kyun Ng Institute of Gerontology, Universiti Putra Malaysia, Selangor, Malaysia Abstract: Mild cognitive impairment (MCI) is a common condition in the elderly. It is characterized by deterioration of memory, attention, and cognitive function that is beyond what is expected based on age and educational level. MCI does not interfere significantly with individuals’ daily activities. It can act as a transitional level of evolving dementia with a range of conversion of 10%–15% per year. Thus, it is crucial to protect older people against MCI and developing dementia. The preventive interventions and appropriate treatments should improve cognitive performance, and retard or prevent progressive deficits. The avoidance of toxins, reduction of stress, prevention of somatic diseases, implementation of mental and physical exercises, as well as the use of dietary compounds like antioxidants and supplements can be protective against MCI. The modification of risk factors such as stopping smoking, as well as the treatment of deficiency in vitamins and hormones by correcting behaviors and lifestyle, can prevent cognitive decline in the elderly. The progressive increase in the growth rate of the elderly population can enhance the rate of MCI all over the world. There is no exact cure for MCI and dementia; therefore, further studies are needed in the future to determine causes of MCI and risk factors of progression from MCI to dementia. This will help to find better ways for prevention and treatment of cognitive impairment worldwide. Keywords: AD, Alzheimer’s disease, cognition, dementia, MC

Experiment protocol for human–robot interaction studies with seniors with mild cognitive impairments

© The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Singapore Pte Ltd. 2020. While assistive robotics (AR) have shown promise in supporting seniors with daily life activities and psycho-social development, evaluation of AR systems presents novel challenges. From a technical point of view, reproducing HRI experiments has been problematic due to the lack of protocols, standardization and benchmarking tools, which ultimately impairs the evaluation of previous experiments. On the other hand, working with seniors with cognitive decline presents a major design challenge for researchers, since communication skills, state of mind and attention of participants are compromised. To address these challenges, this paper presents practical recommendations and a protocol for conducting HRI experiments with seniors with mild cognitive decline (MCI)