PPT-Mitochondrial Disorders and

Cerebral Folate Deficiency in Autism Spectrum Disorder Richard E Frye MD PhD Director of Autism Research Associate Professor of Pediatrics Arkansas Childrens Hospital The Rise in Autism. A working hypothesis. June 25, 2014. Sneha. . Sheth. Experimental Medicine, UBC. Supervisor: Dr. Chris Shaw. Research Question: . Do aluminum adjuvants contribute to an autism-like phenotype in young mice? . Anesthesia for a Muscle Biopsy. Case . You are assigned to do an anesthetic for a muscle biopsy. The patient is a 13 month old male toddler with delayed motor milestones. . H. e can not sit unsupported, roll over, cruise or walk yet. He was delivered at 35 weeks PCA and spent 1 week in the NICU for feeding difficulties. There were never any respiratory difficulties. Per the parents the toddler has not had any prior anesthetics. There is no family history of muscular weakness or any problems with anesthesia although mom tells you that she was adopted and knows nothing about her biological family.. By: Dr Natasha Gerbis. Mitochondria. Mitochondria play an essential role in cellular metabolism . Convert food into energy. The “batteries” of the cell. Mitochondria. Synthesize energy molecules called ATP via oxidative phosphorylation. Monogenic mitochondrial disorders. Pathologic conditions such as:. Alzheimer’s disease. Parkinson’s disease. Huntington’s disease. cancer. diabetes. obesity. epilepsy. cardiac disease. Progressive decline in the expression of mitochondrial genes is a central feature of normal human aging. Stephen Okoth BSN, SRNA (Sr.). York . College of PA/. Wellspan. Health NAP . Objectives. Discuss the structure of the Mitochondrion. Discuss . the main . function . of the . Mitochondrion. Detecting and Diagnosing mitochondrial diseases. Anesthesia for a Muscle Biopsy. Case . You are assigned to do an anesthetic for a muscle biopsy. The patient is a 13 month old male toddler with delayed motor milestones. . H. e can not sit unsupported, roll over, cruise or walk yet. He was delivered at 35 weeks PCA and spent 1 week in the NICU for feeding difficulties. There were never any respiratory difficulties. Per the parents the toddler has not had any prior anesthetics. There is no family history of muscular weakness or any problems with anesthesia although mom tells you that she was adopted and knows nothing about her biological family.. Steve Black, PhD. Co-Director. , Cardiovascular Discovery Institute & Mitochondrial Bioenergetics Core . Chief, Pulmonary Vascular Disease Program. Vascular Biology Center. Georgia Regents University. CLINICAL INFORMATIONIntroductionMitochondrial disorders are a group of related, clinically diverse, genetic diseases with a prevalence of 1/5,000 to 1/8,500 that result from dysfunction of the mitocho This is a Mitochondria, let’s call it MiTO for short,they are tiny but mighty...They are in your cells and make your body work. Especially dedicated to Tom, who is so brave,in his battle withMitocho Matthew Zimmerman, PhD. Assistant Professor. Cellular & Integrative Physiology. University of Nebraska Medical Center. mczimmerman@unmc.edu. Lecture Outline. Sources of mitochondrial-produced reactive oxygen species (ROS). Mitochondrial DNA replication. MtDNA. replication is not directly linked to the plant cell cycle, and . mtDNA. copy numbers can vary widely depending on the tissue and stage of development.. MtDNA. ToxCast data to predict acute toxicity. Dan Wilson, PhD, DABT. Science Leader – Cheminformatics. The Dow Chemical . Company. ddwilson@dow.com. (989)636-0712. EPA’s Computational Toxicology Communities of Practice. MitoAction. Expert Series Meeting. August 5, 2022. Amy Goldstein, MD . Jamie Peterson, MS, LCGC. What is mitochondrial disease?. Mitochondrial are our bodies’ “batteries”. Primary mitochondrial disease is an “energy deficiency” due to a mutation(s) in the DNA that affect the mitochondria. 4. M. . Faiyaz-Ul-Haque. , PhD, . FRCPath. Atypical Patterns of Inheritance. Lecture Objectives. By the end of this lecture, students should be able to appreciate the possibility of atypical patterns of inheritance with special emphasis on:.