Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach

Chaturvedi, Swati; Singh, Ashok Kumar; Keshari, Amit K; Maity, Shovan; Sarkar, Srimanta; Saha, Sudipta

doi:10.1155/2016/9828672

Cited by 28 publications

(22 citation statements)

References 132 publications

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“…These changes may cause damage to the proteins, and may propagate and spread from cells, to tissues, and organs, and eventually cause disease. The consequence of the mutation usually ends with a certain signs and implications on the whole body of the human being (17)(18)(19)(20)(21) .…”

Section: Mutation and Defective Genesmentioning

confidence: 99%

Review Article: Defective Genes Cause Disease

Al-Husseiny¹

2021

Int. j. res. appl. sci. biotechnol.

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Variation in DNA, and genes to a lesser or greater extent, can play an important role in most diseases; that is because this variation in will reflect and affect the function of DNA, and genes (combined genes and DNA or separately). This can be affected by environment, life style, as well as the inheriting from parents and previous generations. All these factors can contribute in human diseases. There are different alterations in genes, like imbalance and inequality in chromosomes, disorder in gene (deficiency in gene, which could be complex or single disorder), and cancer. In the last decades, scientists were focus on medicine and genetics; they pay an extensive attention to reach better understanding about diseases and their causes, to serve patients in better way. This tendency and preparations were focused on genes and the changes that may occur, and the sequences of these changes on health. In this regard scientists studied the epigenetic diseases as well, and the application of genes in therapy. Implementation of these concepts in labs and clinics required full understanding of genetic alterations.

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Section: Mutation and Defective Genesmentioning

confidence: 99%

Review Article: Defective Genes Cause Disease

Al-Husseiny¹

2021

Int. j. res. appl. sci. biotechnol.

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“…Their catalytic activity depends on the integrity of their native protein conformation. In this regard, the activity of one or more enzymes is impaired in many diseases due to mutations [4]. Because of the necessity of the correct performance of the enzymes, many drugs have been developed with the aim to target dysfunctional enzymes [5].…”

Section: Introductionmentioning

confidence: 99%

Enzyme Therapy: Current Challenges and Future Perspectives

Fuente

Lombardero²,

Gómez-González

et al. 2021

IJMS

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In recent years, enzymes have risen as promising therapeutic tools for different pathologies, from metabolic deficiencies, such as fibrosis conditions, ocular pathologies or joint problems, to cancer or cardiovascular diseases. Treatments based on the catalytic activity of enzymes are able to convert a wide range of target molecules to restore the correct physiological metabolism. These treatments present several advantages compared to established therapeutic approaches thanks to their affinity and specificity properties. However, enzymes present some challenges, such as short in vivo half-life, lack of targeted action and, in particular, patient immune system reaction against the enzyme. For this reason, it is important to monitor serum immune response during treatment. This can be achieved by conventional techniques (ELISA) but also by new promising tools such as microarrays. These assays have gained popularity due to their high-throughput analysis capacity, their simplicity, and their potential to monitor the immune response of patients during enzyme therapies. In this growing field, research is still ongoing to solve current health problems such as COVID-19. Currently, promising therapeutic alternatives using the angiotensin-converting enzyme 2 (ACE2) are being studied to treat COVID-19.

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“…Coenzymes take part in regulating enzyme activity to perform disparate biochemical reactions 12 . Mutations in metabolic enzymes obstruct typical biochemical reactions leading to many disorders 13 , 14 , 15 .…”

Section: Introductionmentioning

confidence: 99%