Presentation is loading. Please wait.

Presentation is loading. Please wait.

A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease 

Published byHector Morris Modified over 5 years ago

Similar presentations

Presentation on theme: "A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease "— Presentation transcript:

1 A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease  Andrew J. Duncan, Maria Bitner-Glindzicz, Brigitte Meunier, Harry Costello, Iain P. Hargreaves, Luis C. López, Michio Hirano, Catarina M. Quinzii, Michael I. Sadowski, John Hardy, Andrew Singleton, Peter T. Clayton, Shamima Rahman  The American Journal of Human Genetics  Volume 84, Issue 5, Pages (May 2009) DOI: /j.ajhg Copyright © 2009 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Biosynthetic Pathway of Coenzyme Q10
The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

3 Figure 2 HPLC Analysis of Coenzyme Q10 in Cultured Skin Fibroblasts
Reverse phase EC-HPLC chromatograms obtained from lipid extracts of cultured skin fibroblasts from (A) healthy control fibroblasts and (B) the patient. Retention times are coenzyme Q9 = min; coenzyme Q10 = min. The patient's trace clearly shows an additional peak at min (arrow) not resulting from coenzyme Q9 or coenzyme Q10, likely to be the result of accumulation of a metabolic intermediate of coenzyme Q10 biosynthesis. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

4 Figure 3 Sequence Analysis of COQ9
Sequencing electropherograms showing homozygous c.730C→T mutation in the patient's genomic DNA (top) and healthy control genomic DNA (bottom). The mutation predicts a change from arginine to a stop codon at amino acid 244 of the protein. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

5 Figure 4 Evolutionary Conservation Data for COQ9
The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

6 Figure 5 Molecular Model of COQ9 in Homodimeric Form
One monomer is depicted in red, the other in blue. Figure created with Pymol.42 The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

7 Figure 6 Yeast Studies Left: Growth on respiratory (glycerol) medium. Right: Growth on fermentable (glucose) medium selective for the plasmids. (a) Δcoq9 mutant+ empty plasmid; (b) Δcoq9 mutant+ pYcoq9 (yeast COQ9); (c) Δcoq9 mutant+ pYcoq9Stop (yeast coq9 K191X); (d) Δcoq9 mutant+ pHcoq9 (human COQ9). COQ9 genes were placed under the control of a constitutive promoter on a multicopy plasmid. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

Download ppt "A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease "

Similar presentations

Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.

Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.
Connexin Mutations in Skin Disease and Hearing Loss David P. Kelsell, Wei-Li Di, Mark J. Houseman The American Journal of Human Genetics Volume 68, Issue.

Connexin Mutations in Skin Disease and Hearing Loss David P. Kelsell, Wei-Li Di, Mark J. Houseman The American Journal of Human Genetics Volume 68, Issue.
Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.

Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.
Gene Preference in Maple Syrup Urine Disease Mary M. Nellis, Dean J. Danner The American Journal of Human Genetics Volume 68, Issue 1, Pages 232-237 (January.

Gene Preference in Maple Syrup Urine Disease Mary M. Nellis, Dean J. Danner The American Journal of Human Genetics Volume 68, Issue 1, Pages (January.
Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome Lisa G. Riley,

Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome Lisa G. Riley,
Detection of Exon 12 Mutations in the JAK2 Gene

Detection of Exon 12 Mutations in the JAK2 Gene
High-Throughput Homogeneous Mass Cleave Assay Technology for the Diagnosis of Autosomal Recessive Parkinson's Disease  Christopher Schroeder, Michael.

High-Throughput Homogeneous Mass Cleave Assay Technology for the Diagnosis of Autosomal Recessive Parkinson's Disease  Christopher Schroeder, Michael.
Volume 23, Issue 10, Pages (October 2016)

Volume 23, Issue 10, Pages (October 2016)
Volume 14, Issue 3, Pages (May 2004)

Volume 14, Issue 3, Pages (May 2004)
Next-Generation Sequencing for Mutation Detection in Heritable Skin Diseases: The Paradigm of Pseudoxanthoma Elasticum  Andrew P. South, Qiaoli Li, Jouni.

Next-Generation Sequencing for Mutation Detection in Heritable Skin Diseases: The Paradigm of Pseudoxanthoma Elasticum  Andrew P. South, Qiaoli Li, Jouni.
Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta  Pablo Lapunzina, Mona Aglan, Samia Temtamy, José.

Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta  Pablo Lapunzina, Mona Aglan, Samia Temtamy, José.
Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion  Orly Elpeleg, Chaya.

Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion  Orly Elpeleg, Chaya.
A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 Deficiency  Catarina Quinzii, Ali Naini, Leonardo Salviati,

A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 Deficiency  Catarina Quinzii, Ali Naini, Leonardo Salviati,
The Diversity Present in 5140 Human Mitochondrial Genomes

The Diversity Present in 5140 Human Mitochondrial Genomes
Exome Sequencing in Brown-Vialetto-Van Laere Syndrome

Exome Sequencing in Brown-Vialetto-Van Laere Syndrome
A new FOXL2 gene mutation in a woman with premature ovarian failure and sporadic blepharophimosis-ptosis-epicanthus inversus syndrome  Frederico José.

A new FOXL2 gene mutation in a woman with premature ovarian failure and sporadic blepharophimosis-ptosis-epicanthus inversus syndrome  Frederico José.
Mutation of a Nuclear Respiratory Factor 2 Binding Site in the 5′ Untranslated Region of the ADSL Gene in Three Patients with Adenylosuccinate Lyase Deficiency 

Mutation of a Nuclear Respiratory Factor 2 Binding Site in the 5′ Untranslated Region of the ADSL Gene in Three Patients with Adenylosuccinate Lyase Deficiency 
The Molecular Basis of Malonyl-CoA Decarboxylase Deficiency

The Molecular Basis of Malonyl-CoA Decarboxylase Deficiency
Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I  Christian Guelly, Peng-Peng.

Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I  Christian Guelly, Peng-Peng.
2016 Curt Stern Award Address: From Rare to Common Diseases: Translating Genetic Discovery to Therapy1  Brendan Lee  The American Journal of Human Genetics 

2016 Curt Stern Award Address: From Rare to Common Diseases: Translating Genetic Discovery to Therapy1  Brendan Lee  The American Journal of Human Genetics 

Similar presentations

Ads by Google