Immune Function and Mitochondrial Disease

What is the impact of illness or infection on a patient with mitochondrial disease?

Patients, parents, and healthcare providers with firsthand experience of mitochondrial disease have probably experienced the consequences of an illness or infection. Illnesses and infections have a more dramatic and prolonged impact on children and adults who suffer from mitochondrial disorders, often causing long periods of fatigue, regression in developmental milestones, skills or baseline function, and exacerbation or complaints of additional (unrelated) symptoms during and after the period of illness. In addition, some physicians and families notice an increased susceptibility to illness for patients with mitochondrial disease. However, there is limited published data on systematic analysis of immune system in patients with mitochondrial disease. Research focusing on the relationship between immune function and the mitochondria has been mostly limited to cell-based studies.

Join us to listen, learn and discuss the recent research and publication from an interdisciplinary collaboration between clinical investigators, Dr. Melissa Walker (Neurology), Katherine Sims (Metabolic Diseases) and Jolan Walter (Pediatric Immunology) at Massachusetts General Hospital, Boston, MA. These clinicians sought to determine how often infection and illness (including a systemic inflammatory response) occurred in patients with well-defined mitochondrial disease and immunodeficiency. A subset of their mitochondrial patients with evidence of immune abnormaliites repsponded well to immunoglobulin replacement therapy with less infections, preserved developmental milestones and improved quality of life.

About the Speaker

Dr. Katherine Sims is a Pediatric Neurologist at the Massachusetts General Hospital. Her clinical work over the last 30 years has focused on the broad scope of neurogenetic disorders including those of the lysosome, particularly neuronal ceroid lipofuscinosis [Batten disease, NCL disorders], Fabry disease, Norrie disease, general neurometabolic disorders and, most recently, the primary mitochondrial energy metabolism disorders Over the last 15 years, Dr. Sims, working as clinician scientist, has directed the design and development of Patient Registries and BioRepositories for Mitochondrial, NCL and Norrie diseases. She is an expert diagnostician and works with great facility in identifying clinical cases and facilitating entry into appropriate clinical translational studies.

Jolan E. Walter, MD, PhD is the Director of Pediatric Immunodeficiency Program at Massachusetts General Hospital for Children. Dr. Walter’s clinical care focuses on patients with immune deficiency. She jointly follows patients with mitochondrial disease and immune dysfunction with the Neurogenetics Program (Dr Kathy Sims, Dr Amel Karaa and Dr Melissa Walker). She also conducts translational research on autoimmune manifestation of primary immunodeficiencies. Dr. Walter has graduated with a MD and PhD from University of Pecs, Hungary. Dr. Walter is has trained in Pediatrics at Children’s Hospital of the King’s Daughters, Eastern Virginia Medical School and in Allergy/Immunology at Boston Children’s Hospital. During her training, she conducted research both in the field of Virology and Immunology.

Melissa A. Walker, MD, PhD is a fourth year trainee in the Massachusetts General Hospital Child Neurology Residency ProgramDr. Walker’s clinical and scientific interests focus on improving the understanding and treatment of primary mitochondrial disorders. Dr. Walker received her MD and PhD degrees from Columbia University College of Physicians and Surgeons in New York City, New York. She trained in Pediatrics at the Massachusetts General Hospital for Children in Boston, Massachusetts.