Large mitochondrial DNA deletion in an infant with addison disease.

A Novel Large-Scale Deletion of The Mitochondrial DNA of Spermatozoa of Men in North Iran

CASE REPORT Large Mitochondrial DNA Deletion in an Infant with Addison Disease

Background: Mitochondrial diseases are a group of disorders caused by mutations in nuclear DNA or mitochondrial DNA, usually involving multiple organ systems. Primary adrenal insufficiency due to mitochondrial disease is extremely infrequent and has been reported in association with mitochondrial DNA deletion syndromes such as Kearns–Sayre syndrome. Aim: To report a 3-year-old boy with Addison ...

شناسایی یک حذف بزرگ در DNA میتوکندریایی بیماران ایرانی مبتلا به آریتمی قلبی

Introduction: Long QT Syndrome is one of the arrhythmic disorders of the heart that causes sudden cardiac death in patients. Most of the investigations have focused on nuclear genome for finding genetic defects in these disorders, but some of the cases with LQTS cannot be explained by mutations of identified genes. It prompted the authors to focus on the mitochondrial DNA and monitor rearrangem...

بررسی فراوانی جهش های DNA میتوکندریایی در دیابت نوع دو

Background: Mitochondria is one of the intracellular organelle with specific DNA. Some diseases caused by mtDNA mutations have been reported up to now. Mutation of A3243G and deletion of 5kb are two of them that related to Diabetes type II. The aim of this study was to evaluate the frequency of A3243G mutation and 5kb mt DNA deletion in type II diabetic patients.Methods: The DNA extracted from...

Role of Mitochondria in Ataxia-Telangiectasia: Investigation of Mitochondrial Deletions and Haplogroups

Ataxia-Telangiectasia (AT) is a rare human neurodegenerative autosomal recessive multisystem disease that is characterized by a wide range of features including, progressive cerebellar ataxia with onset during infancy, occulocutaneous telangiectasia, susceptibility to neoplasia, occulomotor disturbances, chromosomal instability and growth and developmental abnormalities. Mitochondrial DNA (mtDN...