[Mitochondrial diseases in adults: An update].

Area of Science:

• Biochemistry
• Genetics
• Neurology

Background:

• Mitochondrial diseases involve respiratory chain deficiency, making them frequent inherited metabolic disorders.
• Diagnosis is complicated by dual genetic control (mtDNA and nDNA) and diverse clinical presentations.
• Clinicians should consider mitochondrial disorders when encountering unusual symptom combinations.

Purpose of the Study:

• To enhance clinicians' understanding of adult mitochondrial diseases.
• To review mitochondrial function, genetic basis, and clinical manifestations.
• To emphasize the importance of a multidisciplinary diagnostic approach.

Main Methods:

• Review of mitochondrial origin, function, and energy metabolism.
• Description of genetic bases of mitochondrial diseases.
• Analysis of clinical presentations, affected tissues, and symptoms.
• Discussion of diagnostic tools including imaging, biological, biochemical, and histological explorations.
• Overview of current therapeutic strategies and emerging treatments.

Main Results:

• Mitochondrial diseases stem from complex genetic origins (mtDNA and nDNA).
• Clinical presentations are highly heterogeneous, affecting multiple tissues.
• Advanced sequencing aids diagnosis, but traditional methods remain crucial.
• While supportive care is common, new therapies are under development.

Conclusions:

• A comprehensive, multidisciplinary approach is essential for diagnosing mitochondrial diseases.
• Understanding the pathophysiology is key to developing novel therapeutic strategies.
• Ongoing research promises improved treatments for patients with mitochondrial disorders.