TABLE 2.

Age-associated disorders which directly affect DNA repair and genome maintenance.

Disease	Genes mutated	Pathway affected	Aging-related symptoms	References
Werner syndrome	WRN	Telomere maintenance, DNA replication and recombination repair	Arthritis, cardiovascular diseases, sarcopenia, atherosclerosis, and increased risk of cancer	Sinclair, (2005)
Bloom syndrome	BLM	DNA replication, recombination	High incidence of cancer, pulmonary disease, diabetes	Ivanova et al. (1998)
XFE progeroid syndrome	ERCC4	ICL, NER	Anemia, cardiovascular and kidney disease, neurodegeneration, sensory loss	Bartkova et al. (2006)
Trichothiodystrophy	TTDA, TTDN1, XPB, XPD, XPG	TC-NER	Bone marrow exhaustion, higher risk of cancer	Bryois et al. (2017)
Ataxia telangiectasia	ATM	DSB repair	Bone marrow exhaustion, diabetes, neurodegeneration	Kosar et al. (2011)
Hutchinson-Guilford progeria syndrome	LMNA	Nuclear lamina function, chromatin architecture	Alopecia, arthritis, cardiovascular diseases, skin aging and atrophy	Eriksson et al. (2003)
Cockayne syndrome	CSA, CSB, XPB, XPD, XPG	TC-NER	Ataxia, cataracts, muscular and neurodegeneration	Hauer and Gasser, (2017)
Fanconi anemia	FANCA-FANCW	ICL	Premature bone marrow exhaustion	Armeev et al. (2021)

ICL, Interstrand DNA crosslinks; TC-NER, Transcription coupled nucleotide excision repair; NER, Nucleotide excision repair.