-
Article
Open AccessMitochondrial A12308G alteration in tRNALeu(CUN) in colorectal cancer samples
Colorectal cancer is the third most common type of cancer in men and women and the second leading cause of cancer-related deaths in the United States and UK. Colorectal cancer is strongly related to age, with ...
-
Article
Downregulation of miR-34a in breast tumors is not associated with either p53 mutations or promoter hypermethylation while it correlates with metastasis
MicroRNA-34 family has anti-proliferative and apoptotic roles. Recent studies have shown that p53 upregulates miR-34 family leading to direct repression of several key oncogenes. Inactivation of miR-34a has be...
-
Article
Coding region analysis of vitamin D receptor gene and its association with active calcium stone disease
The purpose of this study was to evaluate the impact of vitamin D receptor (VDR) gene polymorphisms on the status of active renal calcium stone formation. Male active renal calcium stone formers (ASF, final N = 1...
-
Article
No mitochondrial DNA deletions but more D-loop point mutations in repeated pregnancy loss
Repeated pregnancy loss (RPL) occurs in 1 out of 300 couples, and the cause of about 50% of them remains idiopathic. Mitochondria have an important role in human development through ATP production and their in...
-
Article
Association between trinucleotide CAG repeats of the DNA polymerase gene (POLG) with age of onset of Iranian Friedreich’s ataxia patients
Friedreich’s ataxia (FRDA), an autosomal recessive neurodegenerative disorder, is in most cases due to a homozygous intronic expansion resulting in the loss of function of frataxin. As mitochondrial DNA (mtDNA...
-
Article
Is paternal mitochondrial DNA transferred to the offspring following intracytoplasmic sperm injection?
During intracytoplasmic sperm injection (ICSI) the whole sperm, including head, midpiece and tail, is injected into the middle area of the oocyte. To find out what happens to the sperm mitochondria after ICSI,...
-
Article
Atypical presentation of multisystem disorders in two girls with mitochondrial DNA deletions
We describe two girls with atypical presentations of multisystem disorders due to deletions in mitochondrial DNA (mtDNA). One presented with painful carpopedal spasms due to hypoparathyroidism at the age of 4 ...