Cardiovascular diseases (CVD) are one of the leading causes of morbidity and mortality worldwide. mtDNA (mitochondrial DNA) mutations are known to participate in the development and progression of some CVD. Moreover, specific types of mitochondria-mediated CVD have been discovered, such as MIEH (maternally inherited essential hypertension) and maternally inherited CHD (coronary heart disease). Maternally inherited mitochondrial CVD is caused by certain mutations in the mtDNA, which encode structural mitochondrial proteins and mitochondrial tRNA. In this review, we focus on recently identified mtDNA mutations associated with CVD (coronary artery disease and hypertension). Additionally, new data suggest the role of mtDNA mutations in Brugada syndrome and ischemic stroke, which before were considered only as a result of mutations in nuclear genes. Moreover, we discuss the molecular mechanisms of mtDNA involvement in the development of the disease.
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http://dx.doi.org/10.3390/ijms23020952 | DOI Listing |
Alzheimers Dement
December 2024
The University of Texas Health Science Center at San Antonio, San Antonio, TX, USA.
Background: Mitochondria are organelles where energy production takes place via oxidative phosphorylation, thus mitochondrial function influences the organs with large energy consumption, such as the brain. Mitochondria contain their own circular genome (mtDNA), which encodes essential proteins/RNAs involved in oxidative phosphorylation. The maternal inheritance of mtDNA, combined with a higher risk of Alzheimer's disease (AD) observed in females, suggest mtDNA may have a role in AD.
View Article and Find Full Text PDFClin Chem
January 2025
Division of Maternal-Fetal-Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, United States.
Background: Genetic screening has advanced from prenatal cell-free DNA (cfDNA) screening for aneuploidies (cfDNA-ANP) to single-gene disorders (cfDNA-SGD). Clinical validation studies have been promising in pregnancies with anomalies but are limited in the general population.
Methods: Chart review and laboratory data identified pregnancies with cfDNA-SGD screening for 25 autosomal dominant conditions at our academic center.
Physiol Mol Biol Plants
December 2024
Plant Molecular Biology Laboratory, M. S. Swaminathan Research Foundation, Third Cross Street, Taramani Institutional Area, Chennai, 600113 India.
Unlabelled: Hexaploid var. and tetraploid var. are major weeds in rice fields.
View Article and Find Full Text PDFMol Genet Metab
December 2024
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, United States of America.
Free sialic acid storage disorder (FSASD) is a rare autosomal recessive lysosomal storage disease caused by pathogenic SLC17A5 variants with variable disease severity. We performed a multidisciplinary evaluation of an adolescent female with suspected lysosomal storage disease and conducted comprehensive studies to uncover the molecular etiology. The proband exhibited intellectual disability, a storage disease gestalt, and mildly elevated urine free sialic acid levels.
View Article and Find Full Text PDFImmunohematology
December 2024
Transfusion Medicine, Dr. Rela Institute & Medical Centre, Bharath Institute of Higher Education and Research, Chennai, Tamilnadu, India.
Red blood cell (RBC) alloimmunization can occur because of exposure to various sensitizing factors and poses a constant threat in transfusion. Assisted reproductive technology (ART) involves manipulation of sperm, ova, or embryos with the goal of producing a pregnancy. We present an interesting case of ART-induced maternal alloimmunization (AIMA) due to anti-c in a woman carrying a twin pregnancy.
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