Can we detect Alzheimer’s disease early enough through genetic coding? A study conducted by the Gujarat Biotechnology Research Center (GBRC) found a variation in the AChE gene that can be linked to early onset but needs further investigation to be recognized as a definitive diagnostic unit.
As part of the broader work of the Gandhinagar-based Gujarat Biotechnology Research Center (GBRC) toward developing an early diagnostic toolkit for Alzheimer’s disease, a study of a small group of 43 DNA samples found an association between a protein-coding gene variant and disease. However, given the small sample size of the study conducted by the Gulf Medical Research Centre, Mental Health Hospital and Institute of Mental Health in Ahmedabad – 32 people diagnosed with Alzheimer’s disease and 11 healthy individuals as a control group – the association may not be equivalent to causation in this theater.
If an important cause is linked through large-scale prospective studies, it would be a breakthrough of sorts. Because it means that if an individual’s genetic coding shows an AChE variance, they may be at risk of developing Alzheimer’s disease. This can be useful as an early warning system.
Alzheimer’s disease, a progressive neurodegenerative disorder, is classified into two broad groups. Early onset occurs in people younger than 65 years of age, usually between 40 and 50 years of age. Late-onset disease is most often seen in the age group of 65 years or older.
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The pre-printed paper, which has not yet been peer-reviewed, took DNA samples from 32 patients diagnosed with Alzheimer’s disease who had no family history of dementia from various mental health hospitals in Gujarat, the Ahmedabad and Bhuj mental health hospital. and Vadodara. The average age of the patient sample was 68.11 years, with test cases ranging from 52 to 79 years. DNA samples were also taken from 11 other healthy individuals as a control group. All 43 DNA samples were sequenced and analyzed.
The study suggests that three genes–amyloid precursor protein (APP), which is expressed in tissues and localized at synapses, presenilin 1 (PSEN1) and presenilin 2 (PSEN2)–have been associated with the early onset of dominant Alzheimer’s disease. But next-generation sequencing now indicates that “the frequency of mutations in these genes varies greatly between populations, with genetic background playing a profound influence in this variability.”
Due to the lack of data and studies from the Indian context in this regard, on how genetic mutations differ in populations of India and Gujarat, the study established a primary association using targeted sequencing of 94 genes, which were identified in the current literature review.
Single nucleotide polymorphism analysis, which investigates variation in genetic sequences affecting only one of the four building blocks of DNA, found that the AChE gene, which encodes an enzyme responsible for the breakdown of neurotransmitters, is linked to Alzheimer’s disease. This, the paper’s authors claim, is the first, in their view, “there is currently no literature on AChE and its variants that have a role in Alzheimer’s disease.”
GBRC Director Professor Chaitanya Joshi, a co-author of the study, said: Indian Express It is too early to determine whether the association is associated with early or late onset of the disease. He also mentioned the sample size as one of the limitations of the study. “We need to increase the number of patients in the study, and if the same difference is observed in the AChE enzyme, then we can say that this finding is significant.”
Senior genetic counselor at Apollo Hospitals in Ahmedabad, Rina Trivedi, said genetic testing is not on par with the course in diagnosing Alzheimer’s disease, especially in the generally late-onset, age-related cases. Even for early onset, she added, mutational variance need not be indicative of an individual’s exposure to one specific disorder. “It is not a common practice among neurologists to have a genetic test for Alzheimer’s disease. Perhaps when a young person shows signs, genetic testing is done. In general, when the disease starts early, we assume that it is inherited, possibly due to a genetic mutation that may run in the family. What Alzheimer’s disease is recognized clinically and its symptoms treated.But if there is a genetic mutation that is caught early and then they find that it runs in the family, the patient’s offspring and siblings will also be tested for the mutation.However, any change is not diagnostic or suggestive of any complete variant. causes the disorder Mutation can also be caused by a natural change in (gene coding) of a population, or in members of a particular group.Concerning the genetic study conducted around the world so far, we have discovered 22,000 genes, and we have covered 88000 related genes Clinically, we know about 8,000 disorders caused by these,” Trivedi said.
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