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Associated disorders
Published in Steve Hannigan, Inherited Metabolic Diseases: A Guide to 100 Conditions, 2018
In all three types of this disorder the symptoms are similar, with only the age of onset varying. The main efects of this syndrome are the stunting of growth, with afected individuals having disproportionately longer arms and legs, and large hands and feet. Children may be extremely sensitive to light (photosensitive) and develop sunburn easily. The eyes may be affected, with clouding of the lens (cataract) and loss of vision due to nerve damage (optic atrophy). Loss of hearing may also occur due to nerve damage. Premature ageing of the skin is common, with wrinkles developing on the face, legs and arms. This is due to a loss of fat from beneath the skin (subcutaneous adipose tissue). Individuals with this disease may have more pigmentation in their skin and may have pale brown patches on the skin, known as cafe-au-lait spots. Other symptoms include diminished or weakened relexes (hyporelexia), developmental delay and behavioural problems, inability to control involuntary movements (ataxia), feeding diiculties in infancy, dental abnormalities, a clubbed foot, high muscle tone (hypertonia), spine abnormalities and restricted joint movements. Characteristic facial features include an abnormally small head, a face with a pinched appearance, deep-set eyes, a beaked nose and a projecting jaw (prognathism). The symptoms of Cockayne syndrome develop gradually over a number of years. Vision, hearing and functioning of the nervous system worsen over time.
Cockayne Syndrome and the Aging Process
Published in Shamim I. Ahmad, Aging: Exploring a Complex Phenomenon, 2017
Cockayne syndrome (CS) is a disorder with premature aging and short-life expectancy. It is a very complex disease, with progressive degeneration in almost all the organs. The loss of the self-renewal capacity of the stem cells that are responsible to maintain the organs’ tissues is one of the causes of premature aging (Kenyon and Gerson, 2007).
Metronidazole
Published in M. Lindsay Grayson, Sara E. Cosgrove, Suzanne M. Crowe, M. Lindsay Grayson, William Hope, James S. McCarthy, John Mills, Johan W. Mouton, David L. Paterson, Kucers’ The Use of Antibiotics, 2017
Metronidazole toxicity resulting in acute hepatic failure has been described in 8 patients (8%), with three deaths, in a cohort with Cockayne syndrome (Wilson et al., 2015). Cockayne syndrome is a rare, autosomal recessive disorder characterized by small stature, intellectual disability, and accelerated pathologic aging. In this series, the authors noted that none of their patients received metronidazole without serious adverse effects.
MicroRNA Let-7c-5p-Mediated Regulation of ERCC6 Disrupts Autophagic Flux in Age-Related Cataract via the Binding to VCP
Published in Current Eye Research, 2021
Yu Cao, Pengfei Li, Guowei Zhang, Lihua Kang, Tianqiu Zhou, Jian Wu, Yong Wang, Ying Wang, Xiaojuan Chen, Huaijin Guan
Age-related cataract (ARC) is a multifactorial disease that remains the primary cause of irreversible visual impairment and blindness worldwide.1 Genetic and environmental factors are involved in the pathogenesis of ARC.2 UVB exposure causes a burst of reactive oxygen species (ROS) generation in lens tissue and induces structural alterations in DNA, such as the generation of thymine dimers of DNA bases. Oxidative damage to DNA and damage to the DNA repair ability in lens epithelial cells (LECs) are associated with ARC pathogenesis.3–6 Several pathways have been found to be involved in DNA repair, including nucleotide excision repair (NER) and base excision repair (BER).7 NER is a particularly important DNA repair mechanism that removes DNA damage induced by UV.8 During NER, the NER factor is recruited to sites of DNA damage by the Cockayne syndrome complementation group B (CSB) protein (encoded by ERCC6) and then processes the DNA for damage repair. CSB protein deficiency was found to be associated with Cockayne syndrome.9 Our previous research demonstrated that ERCC6 might be epigenetically regulated in LECs in ARC, eventually suppressing the expression of ERCC6.3 Studies have indicated that CSB promotes acetylation of α-tubulin and thereby regulates autophagy.10 However, the role of ERCC6 in the regulation of LECs autophagy remains unknown.
Ribosomopathies and cancer: pharmacological implications
Published in Expert Review of Clinical Pharmacology, 2022
Gazmend Temaj, Sarmistha Saha, Shpend Dragusha, Valon Ejupi, Brigitta Buttari, Elisabetta Profumo, Lule Beqa, Luciano Saso
6) Human Cockayne Syndrome (CS) is an extremely rare disease that is inherited in a recessive manner. It is characterized by postnatal growth failure, premature aging, and neurological dysfunction [250]. Mutations in ERCC8 and ERCC6 are responsible for encoding protein cockayne A and B (CSA and CSB) [251]. Moreover, mutations in the CSB destabilize and reduce rRNA synthesis [252].