Causes of death in pedigrees with the 3243A>G mutation in mitochondrial DNA

Journal of Neurology, Neurosurgery, and Psychiatry
K A Majamaa-VolttiK Majamaa

Abstract

Causes of death of patients with the 3243A>G mutation have been described in case reports or case series with a limited number of subjects. Eighty-two maternally related sibships of 11 families with 3243A>G were included in this survey. The lifespan of each subject in these families was compared with the life expectancy of the general population, adjusted with respect to year of birth and gender. Causes of death were determined among 3243A>G carriers and their first-degree maternal relatives. We identified 123 deceased subjects in families with 3243A>G and found an excess mortality during the early years of life and young adulthood. The median age at death for 3243A>G carriers and their first-degree maternal relatives was significantly lower than that of the general population. Neurological and cardiovascular diseases made up one-third of the causes of death. Sudden and unexpected death was not uncommon in patients with cardiovascular diseases, diabetes and epilepsy. 3243A>G carriers and their first-degree maternal relatives died younger than was predicted by their life expectancy at birth. Neurological disease was the most common cause of death.

Citations

Nov 7, 2012·European Heart Journal Cardiovascular Imaging·Matthew G D BatesGrainne S Gorman
Sep 1, 2012·European Heart Journal·Matthew G D BatesRobert W Taylor
Oct 2, 2012·Journal of the Formosan Medical Association = Taiwan Yi Zhi·Chi-Hung LiuChin-Chang Huang
Jun 27, 2015·Journal of Inherited Metabolic Disease·Markus M LindroosKari Majamaa
Apr 21, 2009·Revue neurologique·J-B ChansonA Echaniz-Laguna
Jun 7, 2014·Acta Paediatrica·Siri H Opdal
Apr 20, 2012·Neuromuscular Disorders : NMD·Kieren G HollingsworthPatrick F Chinnery
Jun 8, 2013·International Journal of Cardiology·Matthew G D BatesGráinne S Gorman
Jun 8, 2017·Annals of the American Thoracic Society·Marshall S RileyChristopher B Cooper
Jun 4, 2019·International Journal of Legal Medicine·Laura KytövuoriMika H Martikainen
Oct 28, 2019·Journal of Inherited Metabolic Disease·Constantinos PapadopoulosPascal Laforêt

❮ Previous
Next ❯

Related Concepts

Related Feeds

Cardiomyopathy

Cardiomyopathy is a disease of the heart muscle, that can lead to muscular or electrical dysfunction of the heart. It is often an irreversible disease that is associated with a poor prognosis. There are different causes and classifications of cardiomyopathies. Here are the latest discoveries pertaining to this disease.

Cardiovascular Disease Pathophysiology

Cardiovascular disease involves several different processes that contribute to the pathological mechanism, including hyperglycemia, inflammation, atherosclerosis, hypertension and more. Vasculature stability plays a critical role in the development of the disease. Discover the latest research on cardiovascular disease pathophysiology here.