2.8 years ago

david 4.3k

@david_fe

Exercise as therapy is something we tend to overlook when discussing mitochondrial dysfunctions. As this article says:

Exercise is a particularly important modality in diagnosis as well as therapy.

Caveat: this article also says:

Mitochondrial myopathies are caused by genetic mutations that directly influence the functioning of the electron transport chain (ETC).

That's an oversimplification. In reality mitochondrial disorders encompass a large array of disorders whose onset can occur at any age. Glaucoma is, at least in part, a mitochondrial disorder. All glaucomas have a final common pathway of retinal ganglion cell death involving low-grade inflammation, oxidative damage, mitochondrial dysfunction, and glial hyperactivation.

The following article helps increase our understanding of mitochondrial dysfunction in glaucoma:

Mitochondrial myopathies: diagnosis, exercise intolerance, and treatment options - PubMed

Abstract

Mitochondrial myopathies are caused by genetic mutations that directly influence the functioning of the electron transport chain ("ETC"). It is estimated that 1 of 8000 people have pathology inducing mutations affecting mitochondrial function. Diagnosis often requires a multifaceted approach with measurements of serum lactate and pyruvate, urine organic acids, magnetic resonance spectroscopy (MRS), muscle histology and ultrastructure, enzymology, genetic analysis, and exercise testing.

FitEyes note: a diagnosis of glaucoma implies some level of mitochondrial dysfunction.

The ubiquitous distribution of the mitochondria in the human body explains the multiple organ involvement. Exercise intolerance is a common but often an overlooked hallmark of mitochondrial myopathies. The muscle consequences of electron transport chain ("ETC") dysfunction include increased reliance on anaerobic metabolism (lactate generation, phosphocreatine degradation), enhanced free radical production, reduced oxygen extraction and electron flux through ETC, and mitochondrial proliferation or biogenesis.

Treatments have included:

• antioxidants (vitamin E, alpha lipoic acid)
• electron donors and acceptors (coenzyme Q10, riboflavin)
• alternative energy sources (creatine monohydrate)
• lactate reduction strategies (dichloroacetate)
• exercise training.

Exercise is a particularly important modality in diagnosis as well as therapy.

Increased awareness of these disorders by exercise physiologists and sports medicine practitioners should lead to more accurate and more rapid diagnosis and the opportunity for therapy and genetic counseling.