Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders.
Rothmund-Thomson Syndrome (RTS) is a rare autosomal recessive disease which manifests several clinical features of accelerated aging. These findings include atrophic skin and pigment changes, alopecia, osteopenia, cataracts, and an increased incidence of cancer for patients carrying RECQL4 germline mutations. Mutations in RECQL4 are responsible for the majority of cases of RTS. RECQL4 belongs to RECQ DNA helicase family which has been shown to participate in many aspects of DNA metabolism. In the past several years, accumulated evidence indicates that RECQL4 is important not only in cancer development but also in the aging process. In this review, based on recent research data, we summarize the common aging findings in RTS patients and propose possible mechanisms to explain the aging features in these patients.
Texas Children's Cancer Center, Department of Pediatrics, Section of Hematology/Oncology, Baylor College of Medicine, 1102 Bates Avenue, Suite 1200, Houston, TX 77030, USA.
Linchao
L
Lu
Texas Children's Cancer Center, Department of Pediatrics, Section of Hematology/Oncology, Baylor College of Medicine, 1102 Bates Avenue, Suite 1200, Houston, TX 77030, USA.
Weidong
W
Jin
Texas Children's Cancer Center, Department of Pediatrics, Section of Hematology/Oncology, Baylor College of Medicine, 1102 Bates Avenue, Suite 1200, Houston, TX 77030, USA. Electronic address: llwang@bcm.edu.
Lisa L
LL
Wang
D000375:Aging / Q000235:genetics*; D006801:Humans; D009154:Mutation; D053484:RecQ Helicases / Q000235:genetics*; D011038:Rothmund-Thomson Syndrome / Q000175:diagnosis / Q000235:genetics; D063189:Symptom Assessment / Q000379:methods
C506731:RECQL4 protein, human; D053484:RecQ Helicases
DNA damage repair; Mitochondria; RECQL4; Rothmund-Thomson syndrome; Senescence; Telomere