Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0003635 (apraxia)
 2,817 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Several different autosomal recessive genetic disorders characterized by ataxia with oculomotor apraxia (AOA) have been identified with the unifying feature of defective DNA damage recognition and/or repair. We describe here the characterization of a novel form of AOA showing increased sensitivity to agents that cause single-strand breaks (SSBs) in DNA but having no gross defect in the repair of these breaks. Evidence for the presence of residual SSBs in DNA was provided by dramatically increased levels of poly (ADP-ribose)polymerase (PARP-1) auto-poly (ADP-ribosyl)ation, the detection of increased levels of reactive oxygen/nitrogen species (ROS/RNS) and oxidative damage to DNA in the patient cells. There was also evidence for oxidative damage to proteins and lipids. Although these cells were hypersensitive to DNA damaging agents, the mode of death was not by apoptosis. These cells were also resistant to TRAIL-induced death. Consistent with these observations, failure to observe a decrease in mitochondrial membrane potential, reduced cytochrome c release and defective apoptosis-inducing factor translocation to the nucleus was observed. Apoptosis resistance and PARP-1 hyperactivation were overcome by incubating the patient's cells with antioxidants. These results provide evidence for a novel form of AOA characterized by sensitivity to DNA damaging agents, oxidative stress, PARP-1 hyperactivation but resistance to apoptosis.
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PMID:A novel form of ataxia oculomotor apraxia characterized by oxidative stress and apoptosis resistance. 1734 66

Alzheimer's disease is a neurodegenerative disease that mainly occurs in old age and early stages. Its main manifestations are memory impairment, aphasia, apraxia, loss of identity, abstract thinking and impairment of computing power, personality and behavior changes, etc. At present, the treatment of Alzheimer's disease only stays on reducing the disease and delaying the development, which is also a difficult problem to overcome in clinical practice. Hydrogen sulfide, as a third gaseous signal molecule after carbon monoxide and nitrogen monoxide, has become very popular in recent years. It shows very promising prospects in the Alzheimer's disease model. It can protect the nerve function and prevent the progress of the disease by affecting the amyloid precursor protein metabolism, anti-apoptosis, anti-inflammatory, and antioxidant pathways. Therefore, this article summarizes the relevant basic and clinical research of hydrogen sulfide in Alzheimer's disease, and discusses its progress and findings and mechanism characteristics.
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PMID:Research progress of hydrogen sulfide in Alzheimer's disease from laboratory to hospital: a narrative review. 3300 10