Research and Reports on Genetics

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Short Communication - Research and Reports on Genetics (2022) Volume 4, Issue 4

Standard medical genetics based on Alzheimer's disease

Eunkyungchoi Choi*

Department of Biochemistry, Institute of Chemistry, University of Sao Paulo, Sao Paulo, Brazil

*Corresponding Author:
Eunkyungchoi Choi
Department of Biochemistry
Institute of Chemistry
University of Sao Paulo
Sao Paulo, Brazil
E-mail: eunkyungchoi@Choi

Received: 02-Jul-2022, Manuscript No. AARGS-22-117; Editor assigned: 04-Jul-2022, PreQC No. AARGS-22-117(PQ); Reviewed: 18-Jul-2022, QC No. AARGS-22-117; Revised: 19-Jul-2022, Manuscript No. AARGS-22-117(R); Published: 23-Jul-2022, DOI:10.35841/aargs-4.4.117

Citation: Choi E. Standard Medical genetics based on Alzheimer's disease. J Res Rep Genet. 2022;4(4):117

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Alzheimer's disease, Medical genetics, Drug repurposing, Angiotensin-converting enzyme inhibitors.


Acylcarnitine profile analysis is performed for biochemical detection of mitochondrial Fatty Acid β-Oxidation (FAO) and impaired organic acid metabolism. The results of in the diagnosis of several disorders, including: B. Medium-Chain acyl-CoA Dehydrogenase (MCAD) deficiency; however, additional tests may be required to obtain an accurate diagnosis. In the first, second, and third states revealed by acyl-carnitine analysis, one substrate, short-chain, mediumchain, and/or long-chain acyl-CoA species, is commonly accumulated. Evaluation of several carnitine acyl CoA transferases expressed in different intracellular compartments The resulting acylcarnitine species are measured in the following clinical situations: evaluation of symptomatic patientsknown evaluation patients for asymptomatic siblings, newborn screening and follow-up, prenatal diagnosis, postmortem testing [1].

ACP analysis detects impaired mitochondrial and organic acid metabolism. Birth defects in FAO mitochondrial disease can occur at any age, from birth to adulthood. They are associated with life-threatening episodes of metabolic decompensation that follow a period of caloric deficiency and or comorbidities. Typical symptoms include hypoketonic hypoglycemia, liver disease, skeletal muscle disorders and cardiomyopathy, and sudden and unexpected death. ACP abnormalities have also been reported in peroxisome diseases associated with β-oxidation disorders of very long chain fatty acids However, the latter group of disorders is better diagnosed by plasma and branched-chain fatty acid analysis [2].

This examination commonplace was communicated by a literature review that features all current pointers and skilled opinion. Resources consulted embrace PubMed (search terms: acylcarnitine quantification, acylcarnitine analysis, isolation, UPLC, peroxysome, prenatal, urine), Clinical and Laboratory Standards Institute (CLSI). Weekly report on morbidity and mortality at regulative and sickness management centers and bar wonderful laboratory practices for organic chemistry genetic testing and newborn screening for inborn errors of metabolism twenty nine. If the literature on the subject provided inconsistent or inadequate proof, the author used it.The skilled review consisted of co-authors of the document, members of the organic chemistry genetic science committee of the workplace Committee, and specialists approved during this document in consultation with outside operating teams [3].

Conflicts of interest between unit members or consultants area unit listed. The yank faculty of Medical genetic science and genetics workplace reviews the document, provides extra input on the content, and therefore the final draft is submitted to the ACMG board for review and approval, and members for comment. The ultimate draft of the document was announce on the ACMG web site associated an email link was sent to ACMG members asking everybody to comment. The comments of all members were evaluated by the author. extra proof is additionally enclosed and recommendations area unit modified as required. Member comments and author responses were reviewed by representatives of the workplace Quality Assurance Committee and therefore the ACMG Board of administrators. the ultimate document was approved by the ACMG Board of administrators. This updated commonplace replaces the previous acylcarnitine profile analysis [4].

Genetics is a rapidly evolving field, with significant advances in technology and bioinformatics. Clinical geneticists and genetic consultants face new challenges and need to meet the growing demand for genetic services and adapt to the complex and evolving nature of medical genetics at this time. Geneticists are often compared to other medical professionals in terms of "productivity" based on quantitative indicators such as the number of patients treated and the number of contacts with patients. However, the practical requirements of clinical genetics, which have always differed in terms of the time required for patient evaluation and proper genetic counseling, are, for example, B. Chromosome microarray analysis, more Complex and Time-Consuming (CMA) and: Includes Generational Sequencing (NGS), Whole Exome Sequencing and Genetic Sequencing Panels. In addition to the "old-fashioned" laboratory tests for patients with rare diseases, interpreting the clinical relevance of the complex data obtained from these tests is a challenge for laboratories and clinical geneticists [5].


As new genetic technologies such as CMA and NGS become the standard of care in clinical genetics, the nature of the genetic services offered has changed dramatically. The impact of these tests on the workload in terms of use and interpretation by clinical geneticists and the task of explaining these tests to the family should be evaluated. The purpose of this preliminary study was to assess the time commitments resulting from the use of these new technologies and the impact of these changes on the practice of medical geneticist.


  1. Bush AI. The metallobiology of Alzheimer's disease. Trends Neurosci. 2003;26(4):207-14.
  2. Indexed at, Google Scholar, Cross Ref

  3. Goedert M, Spillantini MG. A century of Alzheimer's disease. sci. 2006;314(5800):777-81.
  4. Indexed at, Google Scholar, Cross Ref

  5. Younkin SG. The role of Alzheimer's disease. J Physiol Paris. 1998;92(3):289-92.
  6. Indexed at, Google Scholar

  7. Citron M. Alzheimer's disease: strategies for disease modification. Nat Rev Drug Discov.  2010;9(5):387-98.
  8. Indexed at, Google Scholar, Cross Ref

  9. Mattson MP. Pathways towards and away from Alzheimer's disease. Nature. 2004;430(7000):631-9.
  10. Indexed at, Google Scholar, Cross Ref

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