BACKGROUND Alström syndrome(AS,OMIM ID 203800)is a rare disease involving multiple organs in children and is mostly reported in non-Chinese patients.In the Chinese population,there are few reports on the clinical...BACKGROUND Alström syndrome(AS,OMIM ID 203800)is a rare disease involving multiple organs in children and is mostly reported in non-Chinese patients.In the Chinese population,there are few reports on the clinical manifestations and pathogenesis of AS.This is the first report on the association between AS and Graves’hyperthyroidism.CASE SUMMARY An 8-year-old Chinese girl was diagnosed with AS.Two years later,Graves’hyperthyroidism developed with progressive liver dysfunction.The patient’s clinical data were collected;DNA from peripheral blood of the proband,parents and sibling was collected for gene mutation detection using the second-generation sequencing method and gene panel for diabetes.The association between the patient’s genotype and clinical phenotype was analyzed.She carried the pathogenic compound heterozygous mutation of ALMS1(c.2296_2299del4 and c.11460C>A).These stop-gain mutations likely caused truncation of the ALMS1 protein.CONCLUSION The manifestation of hyperthyroidism may suggest rapid progression of AS.展开更多
Ethylene-mediated leaf senescence and the compromise of photosynthesis are closely associated but the underlying molecular mechanism is a mystery.Here we reported that apple DEHYDRATASE-ENOLASE-PHOSPHATASE-COMPLEX1(Md...Ethylene-mediated leaf senescence and the compromise of photosynthesis are closely associated but the underlying molecular mechanism is a mystery.Here we reported that apple DEHYDRATASE-ENOLASE-PHOSPHATASE-COMPLEX1(MdDEP1),initially characterized to its enzymatic function in the recycling of the ethylene precursor SAM,plays a role in the regulation of photosystem I(PSI)activity,activating reactive oxygen species(ROS)homeostasis,and negatively regulating the leaf senescence.A series of Y2H,Pull-down,CO-IP and Cell-free degradation biochemical assays showed that MdDEP1 directly interacts with and dephosphorylates the nucleus-encoded thylakoid protein MdY3IP1,leading to the destabilization of MdY3IP1,reduction of the PSI activity,and the overproduction of ROS in plant cells.These findings elucidate a novel mechanism that the two pathways intersect at MdDEP1 due to its moonlighting role in destabilizing MdY3IP1,and synchronize ethylene-mediated leaf senescence and the compromise of photosynthesis.展开更多
文摘BACKGROUND Alström syndrome(AS,OMIM ID 203800)is a rare disease involving multiple organs in children and is mostly reported in non-Chinese patients.In the Chinese population,there are few reports on the clinical manifestations and pathogenesis of AS.This is the first report on the association between AS and Graves’hyperthyroidism.CASE SUMMARY An 8-year-old Chinese girl was diagnosed with AS.Two years later,Graves’hyperthyroidism developed with progressive liver dysfunction.The patient’s clinical data were collected;DNA from peripheral blood of the proband,parents and sibling was collected for gene mutation detection using the second-generation sequencing method and gene panel for diabetes.The association between the patient’s genotype and clinical phenotype was analyzed.She carried the pathogenic compound heterozygous mutation of ALMS1(c.2296_2299del4 and c.11460C>A).These stop-gain mutations likely caused truncation of the ALMS1 protein.CONCLUSION The manifestation of hyperthyroidism may suggest rapid progression of AS.
基金This work was supported by grants from the National Natural Science Foundation of China(32122080,31972375,31902049)Shandong Province(ZR2020YQ25).
文摘Ethylene-mediated leaf senescence and the compromise of photosynthesis are closely associated but the underlying molecular mechanism is a mystery.Here we reported that apple DEHYDRATASE-ENOLASE-PHOSPHATASE-COMPLEX1(MdDEP1),initially characterized to its enzymatic function in the recycling of the ethylene precursor SAM,plays a role in the regulation of photosystem I(PSI)activity,activating reactive oxygen species(ROS)homeostasis,and negatively regulating the leaf senescence.A series of Y2H,Pull-down,CO-IP and Cell-free degradation biochemical assays showed that MdDEP1 directly interacts with and dephosphorylates the nucleus-encoded thylakoid protein MdY3IP1,leading to the destabilization of MdY3IP1,reduction of the PSI activity,and the overproduction of ROS in plant cells.These findings elucidate a novel mechanism that the two pathways intersect at MdDEP1 due to its moonlighting role in destabilizing MdY3IP1,and synchronize ethylene-mediated leaf senescence and the compromise of photosynthesis.
