Leigh Syndrome with Nephropathy and CoQ10 Deficiency Due to decaprenyl diphosphate synthase subunit 2 (PDSS2) Mutations Luis Carlos López, Markus Schuelke,

Slides:

Advertisements

Similar presentations

Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome Michel De Vos, Bruce E. Hayward, Susan Picton, Eamonn.

Advertisements

Nuclear and Mitochondrial DNA Analysis of a 2,000-Year-Old Necropolis in the Egyin Gol Valley of Mongolia Christine Keyser-Tracqui, Eric Crubézy, Bertrand.

TFIIH Subunit Alterations Causing Xeroderma Pigmentosum and Trichothiodystrophy Specifically Disturb Several Steps during Transcription Amita Singh, Emanuel.

Elevated Frequency and Allelic Heterogeneity of Congenital Nephrotic Syndrome, Finnish Type, in the Old Order Mennonites Stacey Bolk, Erik G. Puffenberger,

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.

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 (January.

The Duty to Recontact: Attitudes of Genetics Service Providers Jennifer L. Fitzpatrick, Cecil Hahn, Teresa Costa, Marlene J. Huggins The American Journal.

Peopling of Sahul: mtDNA Variation in Aboriginal Australian and Papua New Guinean Populations Alan J. Redd, Mark Stoneking The American Journal of Human.

Atypical phenotype in two patients with LAMA2 mutations

Mindy Aisen, M.D., Geoffrey Arit, M.D., Steven Foster, M.D. CHEST

Neonatal hypoglycemia: A wide range of electroclinical manifestations and seizure outcomes Ebru Arhan, Zeynep Öztürk, Ayşe Serdaroğlu, Kürşad Aydın,

The presence of PDA and depression of beta and alpha activities is supportive of underlying structural abnormalities (both gray and white matter) in the.

K. Kiryluk, F. Khan, A. Valeri Kidney International

Development of chronic epilepsy after recurrent episodes of Posterior Reversible Encephalopathy Syndrome associated with Periodic Lateralized Epileptiform.

Transmission/Disequilibrium Tests for Extended Marker Haplotypes

Sébastien Jacquemont, Randi J

Fragile-X–Associated Tremor/Ataxia Syndrome (FXTAS) in Females with the FMR1 Premutation R.J. Hagerman, B.R. Leavitt, F. Farzin, S. Jacquemont, C.M.

Images of a 51-year-old woman (patient 8) with generalized tonicoclonic status epilepticus. Images of a 51-year-old woman (patient 8) with generalized.

Plasma exchange in cryptogenic new onset refractory status epilepticus

Panayiotopoulos syndrome

Mutation in the mitochondrial tRNAIle gene causes progressive myoclonus epilepsy Gábor Zsurka, Felicitas Becker, Markus Heinen, Hans-Jürgen Gdynia, Holger.

Reversible homonymous hemianopia secondary to occipital lobe seizures

Fainting with HIV The American Journal of Medicine

Volume 50, Issue 1, Pages (January 2014)

A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 Deficiency Catarina Quinzii, Ali Naini, Leonardo Salviati,

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

PLA2G6 Mutation Underlies Infantile Neuroaxonal Dystrophy

News in Ubiquinone Biosynthesis

Symptoms in focal sensory seizures

The Origin of Abnormalities in Recurrent Aneuploidy/Polyploidy

Factor H Mutations in Hemolytic Uremic Syndrome Cluster in Exons 18–20, a Domain Important for Host Cell Recognition Anna Richards, Mark R. Buddles,

Genetics, Individuality, and Medicine in the 21st Century*

Diabetic Muscle Infarction: Case Report of a Rare Complication

Photograph, CT, and MR imaging of the patient.

A Longer Polyalanine Expansion Mutation in the ARX Gene Causes Early Infantile Epileptic Encephalopathy with Suppression-Burst Pattern (Ohtahara Syndrome)

Malcolm O. Perry, MD, Richard Kempczinski, MD

Lisa Shah, MD Journal of Pain and Symptom Management

John R. Mehall, MD, James L. Leach, MD, Walter H. Merrill, MD

Visuospatial Construction

Figure 2 Specific brain MRI findings of 8 patients

Figure 2 Facial appearance and brain imaging

Mitochondria and Cancer

Family-Based Tests of Association in the Presence of Linkage

Erratum The American Journal of Human Genetics

Maternally Inherited Cardiomyopathy: An Atypical Presentation of the mtDNA 12S rRNA Gene A1555G Mutation Filippo M. Santorelli, Kurenai Tanji, Panagiota.

Early Central Nervous Complications after Umbilical Cord Blood Transplantation for Adults Hiroto Narimatsu, Koichi Miyamura, Hiroatsu Iida, Motohiro.

The First Nuclear-Encoded Complex I Mutation in a Patient with Leigh Syndrome Jan Loeffen, Jan Smeitink, Ralf Triepels, Roel Smeets, Markus Schuelke,

Portrait of a Methanol-intoxicated Brain

Ryan McDaniell, Daniel M. Warthen, Pedro A

MRI features in 17 patients with l2 hydroxyglutaric aciduria

Society for Investigative Dermatology 2010 Meeting Minutes

X-Linked Dominant Scapuloperoneal Myopathy Is Due to a Mutation in the Gene Encoding Four-and-a-Half-LIM Protein 1 Catarina M. Quinzii, Tuan H. Vu, K.

AGEs in foods: Do they play a role in uremia?

Research Snippets Journal of Investigative Dermatology

Reviewer Acknowledgment

73-Year-Old Man With Gait Disturbance and Imbalance

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy Laura S. Kremer, Felix Distelmaier,

Biljana Ilkovski, Sandra T. Cooper, Kristen Nowak, Monique M

Axial MR image (TR/TE, 10,002/142) obtained when the patient was aged 5 days shows extensive areas of abnormal signal intensity, which suggest edema involving.

MR images of patient 2 (with juvenile-onset DRPLA).

Richard J. Sanders, MD 1, William H. Pearce, MD 2

Maureen J. O'Sullivan, Peter A. Humphrey, Louis P. Dehner, John D

Volume 18, Issue 8, Pages (August 2010)

CoQ biosynthetic pathways in the yeast S. cerevisiae and in humans

Alice S. Whittemore, Jerry Halpern

Anti-voltage-gated calcium channel encephalitis.

Hannah R. Elliott, David C. Samuels, James A. Eden, Caroline L

Quiz page December 2003 American Journal of Kidney Diseases

Presentation transcript:

Leigh Syndrome with Nephropathy and CoQ10 Deficiency Due to decaprenyl diphosphate synthase subunit 2 (PDSS2) Mutations Luis Carlos López, Markus Schuelke, Catarina M. Quinzii, Tomotake Kanki, Richard J.T. Rodenburg, Ali Naini, Salvatore DiMauro, Michio Hirano The American Journal of Human Genetics Volume 79, Issue 6, Pages 1125-1129 (December 2006) DOI: 10.1086/510023 Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 1 CoQ10 biosynthetic pathway. Isopentenyl diphosphates derived from the mevalonate pathway generate geranylgeranyl diphosphate. Additional isopentenyl diphosphates are added by decaprenyl diphosphate synthase, which, in humans is a heterotetramer composed of two prenyl diphosphate synthase subunit 1 and two prenyl diphosphate synthase subunit 2 molecules. PHB is derived from the amino acids tyrosine or phenylalanine. After PHB and decaprenyl diphosphate are produced, at least seven enzymes catalyze condensation, methylation, decarboxylation, and hydroxylation reactions to synthesize CoQ10.1,2 The American Journal of Human Genetics 2006 79, 1125-1129DOI: (10.1086/510023) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 2 A, At age 5 mo, the child was severely hypotonic. B, T2-weighted MR image of the brain at age 3 mo, showing bilateral increased signal intensities at the putamen and globus pallidus, as well as increased white matter signal in the parieto-occipital regions and atrophy in the occipital lobe and peri-insular region. C, EEG during right-sided focal status epilepticus, showing continuous high-voltage 2-hz sharp waves over the entire right hemisphere. D, Gomori trichrome stain, demonstrating several muscle fibers with abnormal subsarcolemmal mitochondrial aggregates (500×). E, COX stain, showing a similar pattern of increased subsarcolemmal stain (400×). The American Journal of Human Genetics 2006 79, 1125-1129DOI: (10.1086/510023) Copyright © 2006 The American Society of Human Genetics Terms and Conditions