Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion.

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...

Folate, cancer, and the common 4,977 bp deletion.

To the Editors: Pelucchi et al. found that folate deficiency increases prostate cancer risk (1). They attributed this to DNA hypomethylation and uracil misincorporation leading to chromosome breaks. However, mitochondrial DNA (mtDNA) should be considered as well. Like chromosomal DNA, mtDNA is vulnerable to breaks due to the uracil excision process (2). Crott et al. found that folate reduced th...

P-201: Prevalence of 4977bp Deletion in Mitochondrial DNA in IVF Failure Women

Background: Successful IVF process is limited by factors such as oocyte quality. Oocyte quality can be defined as its abilities to be fertilized, mature and give rise to normal offspring and it is dependent on nuclear maturation and cytoplasm maturation. Damage to mitochondrial DNA (mtDNA) has been described in oocytes in IVF failure women that decrease cytoplasmic quality because Mitochondria ...

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

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...