Large‐scale mitochondrial DNA deletion underlying familial multiple system atrophy of the cerebellar subtype

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...

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...

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 ...

Extraocular Muscle Atrophy and Central Nervous System Involvement in Chronic Progressive External Ophthalmoplegia

BACKGROUND Chronic progressive external ophthalmoplegia (CPEO) is a classical mitochondrial ocular disorder characterised by bilateral progressive ptosis and ophthalmoplegia. These ocular features can develop either in isolation or in association with other prominent neurological deficits (CPEO+). Molecularly, CPEO can be classified into two distinct genetic subgroups depending on whether patie...