Publication Date:
2004-10-23
Description:
Hypertension and dyslipidemia are risk factors for atherosclerosis and occur together more often than expected by chance. Although this clustering suggests shared causation, unifying factors remain unknown. We describe a large kindred with a syndrome including hypertension, hypercholesterolemia, and hypomagnesemia. Each phenotype is transmitted on the maternal lineage with a pattern indicating mitochondrial inheritance. Analysis of the mitochondrial genome of the maternal lineage identified a homoplasmic mutation substituting cytidine for uridine immediately 5' to the mitochondrial transfer RNA(Ile) anticodon. Uridine at this position is nearly invariate among transfer RNAs because of its role in stabilizing the anticodon loop. Given the known loss of mitochondrial function with aging, these findings may have implications for the common clustering of these metabolic disorders.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3033655/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉 〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3033655/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Wilson, Frederick H -- Hariri, Ali -- Farhi, Anita -- Zhao, Hongyu -- Petersen, Kitt Falk -- Toka, Hakan R -- Nelson-Williams, Carol -- Raja, Khalid M -- Kashgarian, Michael -- Shulman, Gerald I -- Scheinman, Steven J -- Lifton, Richard P -- MO1 RR-00125/RR/NCRR NIH HHS/ -- P50 HL-55007/HL/NHLBI NIH HHS/ -- R01 AG023686/AG/NIA NIH HHS/ -- R01 AG023686-01A1/AG/NIA NIH HHS/ -- R01 AG023686-02/AG/NIA NIH HHS/ -- R01 AG023686-03/AG/NIA NIH HHS/ -- R01 AG023686-04/AG/NIA NIH HHS/ -- R01 DK-49230/DK/NIDDK NIH HHS/ -- R01 DK049230/DK/NIDDK NIH HHS/ -- New York, N.Y. -- Science. 2004 Nov 12;306(5699):1190-4. Epub 2004 Oct 21.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06510, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/15498972" target="_blank"〉PubMed〈/a〉
Keywords:
Adult
;
Aging
;
Anticodon
;
Body Mass Index
;
Cluster Analysis
;
Cytidine
;
*Extrachromosomal Inheritance
;
Female
;
Humans
;
Hypercholesterolemia/*genetics/physiopathology
;
Hypertension/*genetics/physiopathology
;
Magnesium/*blood/urine
;
Male
;
Metabolic Syndrome X/genetics
;
Middle Aged
;
Mitochondria/*genetics/metabolism
;
Mitochondria, Muscle/metabolism/pathology
;
Muscle Fibers, Skeletal/pathology
;
*Mutation
;
Pedigree
;
Phenotype
;
RNA/genetics
;
RNA, Transfer, Ile/*genetics
;
Syndrome
;
Thymidine
;
Uridine
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
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