Understanding Human Mitochondrial DNA Mutations

Understanding Human Mitochondrial DNA Mutations

Asking someone to point their mitochondria out to you is likely to earn a blank stare. Although the 16,500 mitochondrial pairs are at the core of the human blueprint, most people know next to nothing about them. However, these pairs and any human mitochondrial DNA mutations can have dramatic effects on your life and your wellbeing.

Working with mitochondrial DNA mutations is a relatively new science. Although mitochondrial pairs can be used as part of DNA identification, they are such small pieces of cells that they weren't discovered until the invention of electron microscopy. Critical for cell division and growth, their characteristics are passed down within families, allowing them to be used to help trace genetic histories.

Mutations in mitochondria are hard to detect. They are not something that is screened for at a routine physical, and they are usually discovered as a part of exploring another ailment. Additionally, because they are so small, there is a generous threshold of malfunction that must be crossed before the mutations will even show up on tests.

One symptom of mitochondrial malfunction is a phenomenon known as exercise fatigue. While it can be jokingly brushed aside as simply being tired, it is a deeper weariness from physical exertion that would be expected given the patient's health. Often, it is misdiagnosed as chronic fatigue or missed entirely as a symptom in obesity cases.

Another disorder caused by mitochondrial DNA mutations is Kearns-Sayre Syndrome. Known as KSS, it occurs spontaneously, with no predictors for gender, race, or age, although most get it by their 20th birthday if they will have it at all. It can run in families, although since it has only been being studied since the late 1950's this is not conclusively proven as more time is needed.

KSS affects eyesight, eye function, and the heart. The muscles around the eye, including the eyelids, begin to lose functionality. Patients report difficulty opening their eyelids, and develop salt and pepper coloring in their retinas. Vision is not usually severely affected, except for the eyelid blocking the view of the world. Irregular heartbeats often accompany the disorder. While it can be diagnosed, it does not presently have a cure, and the symptoms progressively worsen with time.

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