Research published by Medical Neurogenetics researchers in the Journal of Child Neurology was named in the Top 10 Most Significant Autism Research Achievements of 2009 by Autism Speaks.

Publication: Shoffner J, Hyams L, Niedziela-Langley G, Cossette S, Mylacraine L, Dale J, Ollis L, Kuoch S, Bennett K, Aliberti A, & Hyland K (2009) Fever Plus Mitochondrial Disease Could Be Risk Factors for Autistic Regression. Journal of Child Neurology (PMID: 19773461; article is available through SAGE journals online: http://jcn.sagepub.com/)

Abstract:

To read a press release about the Autism Speaks Top 10 Autism Research Achievements of 2009 list: http://www.autismspeaks.org/press/top_10_research_achievements_2009.php

Seven of our research projects have been selected for presentation at the 2010 American Academy of Neurology meeting in Toronto this April! Presentation topics are listed below. Please check back in April for details of the data that was presented.

1. Genetic Testing of Oxidative Phosphorylation Diseases: Comparison of Next Generation Sequencing with Capillary Sequencing Approaches
2. Complex V (ATP Synthase) Mutations: Diverse Effects on Supercomplex Formation and Oxidative Phosphorylation Function
3. Effects of a Novel Complex III (Cytochrome b Subunit) Mutation on Supercomplex Formation in a Patient with Mitochondrial Myopathy
4. SURF1 Mutation: Effects on Supercomplex Formation and Monomeric Enzyme Assembly
5. A Novel Heteroplasmic Cytochrome b Mutation in the Mitochondrial DNA Is Associated with MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes)
6. Quantitative Oxidative Phosphorylation Enzyme Subunit Western Blot: Role of Testing in a Multifaceted Approach for Diagnosis of Mitochondrial Disease
7. Clinical and Laboratory Features in a Family with an ANT1 (SLC25A4) Gene Mutation: Effects on Monomeric OXPHOS Enzyme Assembly and Supercomplex Formation

Click here for Presentation Posters

Abstract Titles:

1. Clinical and Laboratory Features of a Single Family with Mutations in the POLG1 and
   ANT1 (SLC25A4) Genes [P06.085]
2. A New Sporadic Point Mutation in the ATP6 of the Mitochondrial DNA (mtDNA) in Leigh Disease [P08.122]
3. Carriers of Mutations in Calpain Genes May Increase the Risk of HyperCKemia in Mitochondrial Disease Patients [P06.084]
4. Relationship Between Metabolic Rate Measurements, Mitochondrial Protein Chemistry, and Mitochondrial DNA (mtDNA) Mutations [P01.030]
5. Mitochondrial Disease in Adult and Pediatric Patients with Fatigue and Myalgias [P09-094]
6. Fever and Regression in Autistic Spectrum Disorder Patients with Mitochondrial Disease [S50]
7. Utility of the Measurement of Monoamine Neurotransmitter Metabolites and Other Specific Biomarkers in CSF from Infants and Children with Early Onset Epilepsy [P05.087]
8. Cerebral Folate Deficiency (CFD) and Mitochondrial Disease [P07.095]

Click on the abstract title above to down load the associated presentation poster.