What is DNA damage list some of the medical consequences of defective damage repair?

What is DNA damage list some of the medical consequences of defective damage repair?

Inherited human diseases of DNA repair include many cancer susceptibility syndromes, such as Xeroderma pigmentosum, Ataxia-telangectasia, Bloom’s and Werner’s syndromes, Hereditary Non-Polyposis Colon Cancer, Li-Fraumeni-syndrome, and breast/ovarian cancer syndrome.

What is the DNA damage?

DNA damage is defined as an alteration in DNA structure that is capable of causing cellular injury and reduces viability or reproductive fitness of the organism (Kaufmann and Paules, 1996).

What are the consequences of DNA repair deficiencies?

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Generally speaking, the consequences of DNA repair defects are microcephaly or neurodegeneration. While both pathologies ultimately result from cell loss, the fundamental underpinnings are different. Microcephaly results from cell loss or proliferation defects during neurogenesis.

How DNA damage can affect human health and life?

Most of the time, the results of DNA damage include malformations, cancer, aging, and cell death. The maintenance of genomic stability has been considered, in several studies, as the main factor that leads to human longevity.

Which causes the damage and errors in DNA?

DNA can be damaged via environmental factors as well. Environmental agents such as UV light, ionizing radiation, and genotoxic chemicals. Replication forks can be stalled due to damaged DNA and double strand breaks are also a form of DNA damage.

What happens during DNA repair?

In nucleotide excision repair, enzymes remove incorrect bases with a few surrounding bases, which are replaced with the correct bases with the help of a DNA polymerase and the template DNA. When replication mistakes are not corrected, they may result in mutations, which sometimes can have serious consequences.

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Which of the following is a DNA repair defect?

Three human genetic disorders are associated with defects on nucleotide excision repair: xeroderma pigmentosum (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD).

What are the mechanisms of DNA repair?

At least five major DNA repair pathways—base excision repair (BER), nucleotide excision repair (NER), mismatch repair (MMR), homologous recombination (HR) and non-homologous end joining (NHEJ)—are active throughout different stages of the cell cycle, allowing the cells to repair the DNA damage.

What happens when DNA is damaged in a cell?

When damage to the DNA is too huge to get repair or repairs are not possible, the cell may become senescent. A senescent cell is a cell that loses the ability to divide [1]. It is one of the crucial natural defence mechanism to prevent damaged

Can unrepairable DNA damage cause cancer?

If the unrepairable DNA damage cannot altered. An altered gene due to DNA damage may result in irregular division of cell and forms malignant tumors and invade nearby parts of the body. However, not all tumors are cancerous. Benign tumors do not grow uncontrollably and do not invade neighboring tissues.

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Can DNA be damaged by oxidative stress?

DNA Damage: Causes and Effects. The most significant consequence of oxidative stress in the body is thought to be damage to DNA. DNA may be modified in a variety of ways, which can ultimately lead to mutations and genomic instability.

What’s new in DNA repair?

DNA repair now embraces not only the direct reversal of some types of damage (such as the enzymatic photoreactivation of thymine dimers), but also multiple distinct mechanisms for excising damaged bases, termed nucleotide excision repair (NER), base excision repair (BER) and mismatch repair (MMR) 11 ( Fig 2 ).