Mitochondrial DNA Deletions: Causes & Reasons

Possible Causes for Mitochondrial DNA Deletions

DNA Deletions AR 97.08 64 of 65 TNNI2 Distal Arthrogryposis Type 2b, Digitotalar Dysmorphism, Sheldon-Hall Syndrome AD 100 11 of 11 TNNT1 Nemaline Myopathy AR 89.94 7 of [igenomix.es]

Thin Corpus Callosum AR 94.89 28 of 28 TGFB3 Loeys-Dietz Syndrome, Familial Thoracic Aortic Aneurysm And Aortic Dissection AD 100 34 of 35 TK2 External Ophthalmoplegia With Mitochondrial [igenomix.es]

Limb-Girdle Muscular Dystrophy Type 1H

DNA deletions. [moh-it.pure.elsevier.com]

Two muscle biopsies showed morphological findings compatible with MD associated with subsarcolemmal accumulation of mitochondria and the presence of multiple mitochondrial [moh-it.pure.elsevier.com]

Chronic Progressive External Ophthalmoplegia

OMIM Entries for Mitochondrial DNA Deletion Syndromes ( View All in OMIM ) 157640 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT [ncbi.nlm.nih.gov]

[…] with accumulation of multiple mitochondrial DNA deletions. [doi.org]

DNA deletion. ( 23266267 ) Zhao D....Yuan Y. 2013 49 Subnormal levels of POLI^A cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions [malacards.org]

Luft Disease

Nuclear gene defects may result in mitochondrial disorders by predisposing to multiple mitochondrial DNA deletions or quantitative depletions of mitochondrial DNA content. [clinsci.org]

Cause: Single mitochondrial DNA deletions. Mitochondrial DNA point mutations: A3243G (most common) Source: Dr. Rolf Luft; The development of mitochondrial medicine. [umdf.org]

These deletions, of which there are over 150 species, typically arise spontaneously. [specialneedshomeschooling.com]

Sideroblastic Anemia

His bone marrow DNA was analyzed for the presence of mitochondrial deletions. [ncbi.nlm.nih.gov]

Mitochondrial DNA deletions can be reliably identified in leukocyte DNA in individuals with Pearson syndrome. [ncbi.nlm.nih.gov]

Presbycardia

Ageing-associated 5 kb deletion in human liver mitochondrial DNA. Biochem. Biophys. Res. [nature.com]

Directly repeated sequences associated with pathogenic mitochondrial DNA deletions. Proc Natl Acad Sci U S A 1989;86:8059–8062. 8. [synapse.koreamed.org]

Katayama, M., Obayashi, T., Nimura, Y., Ozawa, T. (1992) Significant existence of deleted mitochondrial DNA in cirrhotic liver surrounding hepatic tumor Biochemical and [mitomap.org]

MERRF Syndrome

In addition, analysis of buccal mitochondrial DNA showed significant amounts of the common 5 kb and 7.4 kb mitochondrial DNA deletions, also detectable in blood. [doi.org]

Am J Hum Genet (in press) Lestienne P, Ponsot G (1988) Kearns Sayre syndrome with muscle mitochondrial DNA deletion. [link.springer.com]

This study suggests that a buccal swab approach can be used to informatively examine mitochondrial dysfunction in children with seizures and may be applicable to screening [ncbi.nlm.nih.gov]

Autosomal Dominant Progressive External Ophthalmoplegia Type 6

Dna Deletions, Autosomal Dominant 6, is also known as progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 6, and has symptoms including [malacards.org]

Definition A disorder characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance, and mitochondrial DNA deletions on [uniprot.org]

C. / Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearne-Sayre syndrome. [einstein.pure.elsevier.com]

Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction. [dovepress.com]

Mitochondrial DNA deletion in a girl with Fanconi??s syndrome. Pediatr Nephrol 2007;22:136-40. [revistanefrologia.com]

[…] ataxia with epilepsy (SCAE) [ 108, 109 ] POLG2 adPEO mitochondrial DNA deletions [ 110 ] C10ORF2 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) [ 111 ]; adPEO [basicmedicalkey.com]

Hereditary Myopathy with Lactic Acidosis due to ISCU Deficiency

[…] with mitochondrial DNA deletions SLC25A3 Micochondrial phosphate carrier deficiency SLC25A4 Mitochondrial DNA depletion syndrome, Progressive external ophthalmoplegia with [genda.com.ar]

DNA deletions, Mitochondrial DNA depletion syndrome AD/AR 89 290 POLG2 Progressive external ophthalmoplegia with mitochondrial DNA deletions AD 5 14 PYGM Glycogen storage [blueprintgenetics.com]

Mitochondrial Complex 3 Deficiency Nuclear Type 1

Genetic analysis did not reveal mitochondrial DNA deletions. The biochemical defect was not present in the patient's muscle tissue culture. [unboundmedicine.com]

Mitochondrial dysfunction was confirmed by 31 P nuclear magnetic resonance spectroscopy. [moh-it.pure.elsevier.com]

[…] abscence of mitochondrial DNA; rho−, mitochondrial DNA with large deletions; rho+, intact mitochondrial DNA © The Authors Journal compilation © 2013 Biochemical Society View [biochemj.org]

Mitochondrial DNA Depletion Syndrome

DNA deletions, Mitochondrial DNA depletion syndrome AD/AR 89 290 POLG2 Progressive external ophthalmoplegia with mitochondrial DNA deletions AD 5 14 RRM2B Progressive external [blueprintgenetics.com]

Deletions of mitochondrial DNA in Kearns-Sayre syndrome. [ncbi.nlm.nih.gov]

Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. [doi.org]

Lethal Infantile Mitochondrial Myopathy

Internal Medicine 34(7): 670-673, 1995 Multiple mitochondrial DNA deletions in a patient with mitochondrial myopathy and cardiomyopathy but no ophthalmoplegia. [eurekamag.com]

( OMIM: 556500) Pearson Marrow - Pancreas syndrome ( OMIM: 557000) Progressive external ophthalmoplegia with mitochondrial DNA deletions (PEO) ( OMIM: 157640) Renal tubulopathy [eddnal.com]

Cause: Single mitochondrial DNA deletions. Mitochondrial DNA point mutations: A3243G (most common) Source: Dr. Rolf Luft; The development of mitochondrial medicine. [specialneedshomeschooling.com]

Ophthalmoplegia

[…] synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia [corrected]. ( 23446635 ) Roos S...Falkenberg M 2013 [malacards.org]

[…] by multiple mitochondrial DNA deletions in skeletal muscle. [mendelian.co]

Mitochondrial DNA deletion syndromes, 2003. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. [elsevier.es]

Mitochondrial Myopathy with Reversible Cytochrome C Oxidase Deficiency

DNA deletions-3 (PEOA3), autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions-2 (PEOA2), autosomal dominant progressive external ophthalmoplegia [brevets-patents.ic.gc.ca]

Detection of mitochondrial DNA deletions in blood using the polymerase chain reaction: non-invasive diagnosis of mitochondrial myopathy. [cambridge.org]

Multiple mitochondrial DNA deletions in an elderly human individual. FEBS Lett. 1992, 297, 34–38. [mdpi.com]

Mitochondrial Myopathy

A single large deletion in mitochondrial DNA and characteristic histochemical features on muscle biopsy suggested a mitochondrial cytopathy. [ncbi.nlm.nih.gov]

Muscle biopsy shows ragged red fibers and there are multiple mitochondrial DNA deletions, suggesting defects of nuclear control of mitochondrial DNA reproduction. [neuroophthalmology.ca]

[…] respiratory chain complexes, multiple mitochondrial DNA (mtDNA) deletions, and increased muscle arsenic content. [ncbi.nlm.nih.gov]

Kearns-Sayre Syndrome

The most commonly reported mitochondrial DNA deletion is 4977 bp in size spanning nucleotides 8469 and 13447. [hkmj.org]

He was found to harbor an abundant novel deletion in skeletal muscle mitochondrial DNA. [ncbi.nlm.nih.gov]

Mitochondrial Neurogastrointestinal Encephalomyopathy

DNA Deletion Encephalopathy Case study Genetics Chromosomal aberration Digestive diseases Abnormal chromosome Cerebral disorder Human Striated muscle disease Nervous system [pascal-francis.inist.fr]

Defects in POLG are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB). [mybiosource.com]

Autosomal Recessive Primary Microcephaly Type 10

DNA deletion syndrome with progressive myopathy 4 Cases 1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 2 Cases 255235 Mitochondrial [azkurs.org]

Dna Deletions, Autosomal Dominant, 4 POLG2 Prostate Cancer, Familial CDH1 Prostatic Neoplasms, Castration-Resistant AR Pulmonary Alveolar Microlithiasis SLC34A2 Pulmonary [selfdecode.com]

DNA depletion syndrome 12B (cardiomyopathic type) AR 615418 103220 Autosomal recessive SLC25A4 4q35.1 Progressive external ophthalmoplegia with mitochondrial DNA deletions [mnglabs.com]

Autosomal Recessive Spastic Paraplegia Type 27