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DNP 810 Topic 1 DQ 2

DQ 2 :What is the patient’s understanding of DNA/RNA replication, transcription, and translation that affect the management of the disease?

Alzheimer’s disease (AD) pathology has been linked to abnormal methylation of numerous genes
responsible for the regulation of transcription, DNA replication, and apoptosis. Transcriptome
profiling of familial early-onset Alzheimer’s disease (fEOAD) patient-derived fibroblasts
demonstrated a strong dysregulation of cell cycle checkpoints and DNA damage response (DDR)
in both fibroblasts and reprogrammed neurons. Familial early-onset Alzheimer’s disease (fEOAD)
shows that aging-correlate with hypermethylation of KLF14 and TRIM59 genes associated with
abnormalities in DNA repair and cell cycle control. Hypermethylation of KLF14 could constitute a
superior epigenetic mechanism for TRIM59 hypermethylation and the methylation status of both
genes affects genome stability which may contribute to proapoptotic signaling in AD (Wezyk, M.,
Spólnicka, M., Pośpiech, E., Pepłońska, B., Zbieć-Piekarska, R., Ilkowski., J., Styczyńska, M.,
Barczak, A., Zboch, M., Filipek-Gliszczynska, A., Skrzypczak, M., Ginalski, K., Kabza, M.,
Makałowska, I., Barcikowska-Kotowicz, M., Branicki, W., Żekanowski, C., 2018).
Research findings by Wezyk, et al., (2018) suggested that the hypermethylation of KLF14 is
associated with epigenetic regulation of the chromatin organization and mRNA processing
followed by hypermethylation of TRIM59, G2/M cell cycle phase, and p53 role in DNA repair with
BRCA1 protein as the key player. These findings reinforce the view that the genetic methylation
status in the blood may be a valuable predictor of molecular processes occurring in affected
tissues in Alzheimer’s disease patients (Wezyk, et al, 2018)
Reference
Samadi, Sayyed Ali; Biçak, Cemal A.; Noori, Hana; Abdalla, Barez; Abdullah, Amir; Ahmed, Lizan.
(2022). Autism Spectrum Disorder Diagnostic Criteria Changes and Impacts on the Diagnostic
Scales-Utility of the 2nd and 3rd Versions of the Gilliam Autism Rating Scale (GARS). Brain
Sciences. V12 (5), p537. 13p. Retrieved from DOI: 10.3390/brainsci12050537.
Wezyk, M., Spólnicka, M., Pośpiech, E., Pepłońska, B., Zbieć-Piekarska, R., Ilkowski., J.,
Styczyńska, M., Barczak, A., Zboch, M., Filipek-Gliszczynska, A., Skrzypczak, M., Ginalski, K.,
Kabza, M., Makałowska, I., Barcikowska-Kotowicz, M., Branicki, W., Żekanowski, C. (2018).
Hypermethylation of TRIM59 and KLF14 Influences Cell Death Signaling in Familial Alzheimer’s
Disease. Oxidative Medicine and Cellular Longevity, Vol 2018 (2018). Oxidative Medicine and
Cellular Longevity, Vol 2018 (2018). DOI: 10.1155/2018/6918797

BQ
Beverly Quiza
Jun 12, 2022, 11:48 PM
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Replies to Amanda Clark
Mental retardation are increasingly growing in our community. in many countries first care
providers are the general practitioner and patients are at risk of developing more severe illness. As
Ogata described the pathogenesis is heterogeneous, including environmental exposure to
infection, drugs, chemical compounds, or genetic factors involving largely unknown genetic
variants. Mental retardation (MR) is a neurological disorder with an estimated prevalence of 2–3%
in developed countries.  It is common in males than in females, indicating the presence of many
causal genes on the X chromosome. Mutations cause the most severe growth defects.
Knowing and understanding the disease process is important in order for us to seek for the right
treatment and to avoid reproduction if possible. Being aware will help and understanding the
etiology of the disease. Diseases caused by inherent defects in DNA replication genes exhibit a
surprising diversity of symptoms. Studies are needed to understand how defects in origin licensing
and origin firing result in unique phenotypes, we propose that each cell type maintains a balance
between origin licensing and origin firing to efficiently replicate their DNA. Disease can arise when
specific cell types cannot compensate for these replication defects, resulting in genomic instability,
accumulation of replication stress and loss of progenitor cells.

References:

Courtot L., Hoffmann J.-S., Bergoglio V. The protective role of dormant origins in response to
replicative stress. Int. J. Mol. Sci. 2018;19:3569. doi: 10.3390/ijms19113569.

Li N., Lam W.H., Zhai Y., Cheng J., Cheng E., Zhao Y., Gao N., Tye B.K. Structure of the origin
recognition complex bound to DNA replication origin. Nat. Cell Biol. 2018;559:217–222.
doi: 10.1038/s41586-018-0293-x.

Ogata T. Genetics of human growth. Clin Pediatr Endocrinol 2006;15: 45–53. doi:
10.1297/cpe.15.45

 MM
Margaret Mbachu
replied toBeverly Quiza
Jun 15, 2022, 8:23 PM

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Replies to Beverly Quiza
Hello Beverly,
I agree that mental retardation is increasing in our community. Some families may have three
or more children born with mental incapacitation. This is a burden to the family and the
economy. It's scary and something needs to be done about it.
AZ
Angela Zafke
Jun 12, 2022, 7:48 PM
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Replies to Amanda Clark
Alzheimer's is a disease that can rob patients of their mind long before their body is ready. While
this disease is commonly thought of as an old person disease, it can tragically strike younger
patients and is known as Early-Onset Alzheimer’s. Early-onset Alzheimer's (EOA) occurs in people
less than 65 years old and tends to have a strong genetic component (Alzheimer’s Association,
2022). According to Mol et al. (2022), the chance of inheriting EOA is 92-100%. Currently, APP,
PSENI, and PSEN2 are the three primary genes that account for 10% of EOA cases (Mol et al.,
2022). Screening for these pathogenic gene mutations can prove to be a useful tool in diagnosis
and disease pathogenesis (Pagnon de la Vega et al., 2022). As the research in the genetic realm
continues to evolve, so does the disease process. Alzheimer’s tends to be a disease of exclusion.
There is not a specific lab that confirms this diagnosis. Rather, the diagnosis of dementia is made,
and then further tests are conducted along with observation of the progression to the diagnosis of
Alzheimer’s (Devere, 2016). While the general population may not understand the specific genetic
factors leading to the mutation, they can understand their risk factors.
Having an understanding of how this disease spreads is vital. In order to develop a cure, one first
must understand the cause. With high familial tendencies and the likelihood of carrying the genes,

people who are predisposed to EOA may alter life plans based on this information. Based on the
patient’s belief system, genetic testing may be important prior to having children in case they carry
the allele or gene for EOA. I personally know a family whose five out of the six children have early-
onset Alzheimer’s disease Three of them have passed away in their 40s to early 50s from this
disease. Because of this, the family is heavily involved in Alzheimer’s research and participates in
studies to find the link and the cure. Their children have completed genetic testing. However, not
all of them have looked at their results. Understanding the genetic link is important but so is
understanding the consequences of genetic testing.

References

Alzheimer’s Association. (2022). Younger/early-onset Alzheimer’s. Retrieved on June 11, 2022
from https://www.alz.org/alzheimers-dementia/what-is-alzheimers/younger-early-
onset?utm_source=google&utm_medium=paidsearch&utm_campaign=google_grants&utm_conten
t=alzheimers&gclid=Cj0KCQjw-
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J7vwaArCeEALw_wcB

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