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Research Progress in Copper Homeostasis and Diseases.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao
February 2025
Department of Clinical Laboratory, The Affiliated Hospital of Hangzhou Normal University,Hangzhou 310015,China.
As an indispensable trace element in the human body,copper plays an important role in various physiological and biochemical reactions.The dyshomeostasis of copper leads to the disorder of copper metabolism and the occurrence of related diseases.Cuproptosis,a newly proposed regulatory cell death mode,is different from the known apoptosis,pyroptosis,necroptosis,and ferroptosis.
View Article and Find Full Text PDFElesclomol rescues mitochondrial copper deficiency in disease models without triggering cuproptosis.
J Pharmacol Exp Ther
February 2025
Department of Biochemistry & Biophysics, Texas A&M University, College Station, Texas. Electronic address:
Copper (Cu) is an essential cofactor for metalloenzymes such as cytochrome c oxidase (CcO), the terminal enzyme of the mitochondrial electron transport chain. Mutations that directly or indirectly prevent Cu transport to mitochondria result in lethal pediatric diseases, such as Menkes disease. There is no clinically approved treatment for Menkes disease.
View Article and Find Full Text PDFIdentification of a Novel ATP7A Variant in a Chinese Boy With Developmental Delay and Epilepsy.
Int J Dev Neurosci
February 2025
Department of Neurology, Women and Children's Hospital of Ningbo University, Ningbo, China.
Menkes disease (MD) is a rare X-linked recessive syndrome that is caused by mutations in the ATP7A gene, which encodes the P-type ATP enzyme. The ATP7A gene encodes 1500 amino acids and is expressed in a number of organs, including the brain, muscles, kidneys and lungs. ATP7A transports copper between cell membranes using energy generated by ATP hydrolysis.
View Article and Find Full Text PDFNovel, likely pathogenic variant in associated with Menkes disease diagnosed with ultrarapid genome sequencing.
BMJ Case Rep
October 2024
Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA
Article Synopsis
- - Menkes disease is a serious neurodegenerative disorder caused by problems with copper absorption, marked by symptoms like 'kinky' hair and developmental delays starting at 2-3 months old, and it follows an X-linked recessive inheritance pattern.
- - Historically, diagnosing Menkes has been challenging due to variable symptoms, often taking months, but new ultrarapid genome sequencing technology allows for quicker DNA-based diagnoses in just hours.
- - Recent case studies have used this sequencing tech to identify new genetic variants related to Menkes disease, paving the way for faster treatment and potentially better long-term health outcomes.
Phenotypic and mutational spectrum of 17 Chinese patients with Menkes Disease.
Neurol Sci
January 2025
Department of Neurology, West China Hospital, Sichuan University, Chengdu, China.
Background: Menkes Disease (MD) is a fatal X-linked recessive disorder caused by mutations in the ATP7A gene. Severe cases typically die before the age of three. Mild MD and occipital horn syndrome are variants of MD characterized by a less severe phenotype and longer survival.
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