Alzheimer’s disease (AD) is a neurodegenerative disorder and common form of dementia in elderly patients accounting for 60 to 80 percent of cases worldwide. The hallmark of AD is deposition of neurofibrillary tangles and amyloid plaques in the brain that lead to neurotoxicity and irreversible loss of neurons in the hippocampus and cortex. Based on the onset of age, AD can be classified into early onset (<65 years) and late-onset>≥ 65 years) groups. Genetic factors such as gene mutation as well as environmental factors both can trigger the disease pathogenesis. The preliminary diagnosis can be performed based on the specific clinical symptoms and genetic analysis can help in establishing the familial cases. Treatments are suggested according to the stages of AD, such as mild, moderate, and severe, based on the clinical symptoms and the diagnosis of the patients.This review focuses on overall AD.
Abstract Preimplantation genetic diagnosis (PGD) is the selective process undertaken during the in vitro fertilisation (IVF) procedure to diagnose genetic abnormalities in the embryos using various genetic techniques and implant only those embryos that are devoid of genetic abnormalities. It was established in the 1990s and is still a developing technology in India. This review summarizes the need for widespread and competent PGD centres equipped with advanced diagnostic techniques to reduce disease burden upon the country’s economy and the requirement for sufficient education of the general population on the advantages of PGD. Issues such as high frequency of consanguinity and genetic disorders such as hemoglobinopathies especially thalassemia can be addressed with the use of PGD. There also needs to be awareness campaigns that help enhance knowledge in this field to improve its use such as reducing the dilemma of increased congenital anomalies in consanguineous unions and prevent its misuse such as preimplantation sex selection and sex based discrimination.
The conservative birth defects and genetic disorders estimate from India indicates that every year 6,78,000 infants with congenital anomalies, 22,477 with metabolic disorders, 34,000 with Down syndrome, 16,700 with β-thalassemia and sickle cell disease, 10,900 with congenital hypothyroidism and 2,700 with Duchene muscular dystrophy and 2,700 with spinal muscular atrophy are born; which suggests how acute the burden is in India. The total number of individuals who are at a higher risk of being afflicted with a genetic disease and consequently requiring diagnosis and counselling would thus be mind boggling. In this paper the researchers have created a state-of-the art directory of genetic test services and counselling centres in India to facilitate access to a comprehensive, accessible, and trust worthy web based genetic information and resources which will prove helpful to the physicians; academicians; scientists and the researchers requiring the above facility for better healthcare.
The classification of chromosomes using a classifier is generally inaccurate owing to closeness of features belonging to various chromosomes which poses a linearly inseparable problem. This paper proposes a novel technique to obtain the non-linear decision boundary. An average classification accuracy of 93% was achieved with this technique which involves arriving at the non-linear decision boundary by joining and smoothening the sample points obtained by sampling the feature space within a boundary limited by the range of the data and by the curves of the best fit to the two classes. The technique works for feature space of any dimension.
A patient presenting with azoospermia was referred for genetic evaluation, and upon karyotyping, he was revealed to have two cell lines-mos46,X,ider(Y)(q10)inv(Y)(p11.3q11.1)/45,X. Further cytogenetic studies such as C banding and fluorescence in situ hybridization were performed, which revealed an inversion duplication of a segment of the Y chromosome; hence, the derivative chromosome contained two SRY genes but only one centromere. Y chromosome microdeletion studies were performed in select STS sequences of AZFa, AZFb and AZFc regions and found to be negative for microdeletions. For such a case of infertility, the couple was advised to undergo artificial reproductive techniques with the help of donor spermatozoa.
This paper shows an investigation of the expressions of MMP-3,-13 and their polymorphisms in patients with lumbar spinal stenosis (LSS).Hypertrophied LF tissues and peripheral bloods were obtained from 50 patients with LSS.The expressions of MMP-3,-13 and their polymorphisms were analyzed.No relationship was found between thickness of LFs and MMP-3,-13 genotypes.LF tissues were divided to three groups as grade 1, 2 and 3. Rich elastic fibrils were observed in grade 1. Elastic fibers and elastin/collagen rates decreased in grade 2-3 and 4, and collagen fibers increased and presented a cystic degeneration.MMP-3 immunopositive cells were higher than MMP-13.A correlation between LF thicknesses and MMP-3 was detected.Both MMP-3, -13 were expressed (MMP-3 in higher quantities) in high grade hypertrophied LF.The researchers expect that this paper would provide a better understanding of the pathogenesis of LF hypertrophy and lead to therapeutic alternatives for LSS patients.
The zebrafish (Danio rerio) is a powerful model organism for the study of vertebrate biology, being well suited to both developmental and genetic analysis. More recently, the rapid progress of various zebrafish genomics infrastructure initiatives is facilitating the development of zebrafish models of human disease. Genome organization and the pathways involved into control of signal transduction appear to be highly conserved between zebrafish and humans and therefore zebrafish may be used for modeling of human diseases. This review will highlight and describe the utility of zebrafish in the study of human diseases.
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