Meet the Expert Series: Professor Carolyn Sue

Professor Carolyn Sue’s Expertise and Research

• Professor Carolyn Sue is a clinician scientist and expert in mitochondrial disease. She leads the Mitochondrial Disease Centre at NeuRA and previously led the Royal North Shore Hospital’s clinic for mitochondrial disease.
• Professor Sue states there have been significant advancements in the diagnosis, treatment, and prevention of mitochondrial disease over the past 30 years.
• Carolyn Sue worked on diagnosing mitochondrial disease with hair follicles. This was successful and allowed patients to send hair follicles by mail for diagnosis.
• Sue’s research led to the first cochlear implant for the treatment of mitochondrial disease.
• Sue worked with other specialists to develop the care standards for mitochondrial disease to provide a roadmap for health professionals to provide care for patients.

Genetic Testing and Diagnosis

• Genetic testing can provide a clear diagnosis for mitochondrial disease, which can help healthcare professionals understand the patient’s condition and develop an appropriate care plan.
• Genetic testing can also inform treatment options, as specific treatments are available for different genetic subgroups of mitochondrial disease.
• In Australia, Medicare now provides funding for genetic testing for mitochondrial disease, making it more accessible to patients.
• Genetic testing is crucial for diagnosing mitochondrial disease, as it provides valuable information for individuals and their families, aiding in understanding and managing the condition.

Mitochondrial Disease: Symptoms and Management

• Mitochondrial disease can affect individuals throughout their lifespan, with cases occurring in childhood, adulthood, and even later in life (60s, 70s, and 80s).
• Mitochondrial disease can manifest with a wide range of symptoms and progressions, even among individuals with the same genetic variant.
• People diagnosed with mitochondrial disease are advised to manage their energy levels carefully due to the limitations the disease has on the body’s energy supply.
• Professor Carolyn Sue stresses the importance of early detection of mitochondrial disease, even in individuals who are asymptomatic but may carry a genetic predisposition.

Genetic Counseling and Myoclonus

• Professor Sue highlights the significance of genetic counselling for individuals diagnosed with mitochondrial disease and encourages those who have not had access to it to seek it out.
• Myoclonus is the clinical manifestation of abnormal, involuntary movements in different parts of the body, indicating hyperexcitability in the brain.

Treatment Options

• Complex one deficiency can be treated with pharmacological agents like Idebenone, gene therapies, and Coenzyme Q10.

MELAS: A Common Type of Mitochondrial Disease

• Stroke-like episodes in MELAS are characterized by a temporary loss of neurological function, often preceded by warning signs such as nausea, headaches, constipation, or seizures.
• MELAS is one of the more common types of Mito.

Key Takeaways

• Carolyn was able to respond to both prepared and unprepared questions comprehensively and simply.
• Key takeaways included being proactive with health, finding knowledgeable healthcare professionals, focusing on nutrition and exercise, and the exciting advancements in genetic testing and treatment options.