DNA repair-deficiency disorder

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DNA repair-deficiency disorder Classification and external resources
MeSH	D049914

An DNA repair-deficiency disorder is a medical condition due to reduced functionality of DNA repair.

It is sometimes considered synonymous with the term accelerated aging disease, which is a genetic disorder in which various tissues, organs or systems of the human body age prematurely. Because the accelerated aging diseases display different aspects of aging, but never every aspect, they are often called segmental progerias by biogerontologists.

This is in contrast to Progeria (Hutchinson-Gilford Progeria syndrome), which affects a broader spectrum of functions.

Contents 1 Examples 2 Debate concerning "accelerated aging" 3 See also 4 References 5 External links

[edit] Examples

Some of the examples include:

• Bloom syndrome
• Cockayne's syndrome
• Werner syndrome
• Xeroderma pigmentosum
• Trichothiodystrophy^[1]

[edit] Debate concerning "accelerated aging"

Some biogerontologists question that such a thing as "accelerated aging" actually exists, at least partly on the grounds that all of the so-called accelerated aging diseases are segmental progerias. Many disease conditions such as diabetes, high blood pressure, etc. are associated with increased mortality. Without reliable biomarkers of aging it is hard to justify the claim that a disease condition represents more than accelerated mortality^[2].

Against this position other biogerontologists argue that premature aging phenotypes are identifiable symptoms associated with mechanisms of molecular damage. The fact that these phenotypes are widely recognized justifies classification of the relevant diseases as "accelerated aging"^[3]. Such conditions, it is argued, are readily distinguishable from genetic diseases associated with increased mortality, but not associated with an aging phenotype, such as cystic fibrosis and sickle cell anemia. It is further argued that segmental aging phenotype is a natural part of aging insofar as genetic variation leads to some people being more disposed than others to aging-associated diseases such as cancer and Alzheimer's disease^[4].

[edit] See also

• Biogerontology
• Degenerative disease
• Genetic disorder
• Senescence

[edit] References

1. ^ Kleijer WJ, Laugel V, Berneburg M, et al (May 2008). "Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy". DNA Repair (Amst.) 7 (5): 744–50. doi:10.1016/j.dnarep.2008.01.014. PMID 18329345. 
2. ^ Miller RA (2004). "'Accelerated aging': a primrose path to insight?". AGING CELL 3 (2): 47-51. PMID 15038817. 
3. ^ Hasty P, Vijg J (2004). "Accelerating aging by mouse reverse genetics: a rational approach to understanding longevity". AGING CELL 3 (2): 55-65. PMID 15038819. 
4. ^ Hasty P, Vijg J (2004). "Rebuttal to Miller: 'Accelerated aging': a primrose path to insight?'". AGING CELL 3 (2): 67-69. PMID 15038820. 

[edit] External links

• Segmental Progeria

v • d • e Congenital malformations and deformations of integument (Q80-Q84, 757) Congenital ichthyosis Epidermolytic hyperkeratosis - Harlequin type ichthyosis - Ichthyosis lamellaris - Ichthyosis vulgaris - Netherton syndrome - X-linked ichthyosis - Zunich-Kaye syndrome Epidermolysis bullosa Epidermolysis bullosa simplex - Epidermolysis bullosa dystrophica Other skin disease Hereditary lymphedema - Mastocytosis - Meleda disease - Naegeli syndrome - Urticaria pigmentosa - Incontinentia pigmenti - Ectodermal dysplasia - EEM syndrome - Hay-Wells syndrome - Kindler syndrome - Port-wine stain - Cutis laxa - Darier's disease - Pseudoxanthoma elasticum - Keratosis pilaris DNA repair-deficiency disorder: Bloom syndrome - Rothmund-Thomson syndrome - Xeroderma pigmentosum Nail disease Leukonychia - Pachyonychia congenita Malformations of breast Amastia - Accessory breast - Athelia - Supernumerary nipple - Micromastia Hair disease Monilethrix - Sabinas brittle hair syndrome see also non-congenital (L, 680-709)