Muscle pain, fatigue, and mitochondriopathies

Article Abstract:

Since many patients have muscle pain and fatigue, it can be difficult to diagnose a mitochondrial muscle disease. A classic sign is exercise intolerance, meaning affected people get muscle pain, fatigue and cramps when they exercise. Another clue is that the disease is inherited from the mother. Muscle biopsies revealed abnormal activity of an enzyme called cytochrome oxidase. Further research showed that the abnormality was caused by a mutation in the cytochrome b gene. A 1999 study found that five patients with exercise intolerance had mutations in this gene.

Mitochondrial myopathies

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The CDKN2A tumor-suppressor locus - a tale of two proteins

Article Abstract:

A mutation in the CDKN2A gene appears to be linked to spontaneous melanoma as well as hereditary melanoma. This gene produces a tumor suppressor protein called p16INK4a. This protein inhibits cell division, so a mutation in the gene would lead to uncontrolled cell division. In a 1998 study, researchers found that five patients with multiple melanoma tumors but no family history had a mutation in the CDKN2A gene. In two cases, an unknown family history of melanoma was identified. It may be too early to screen populations for mutations in the CDKN2A gene.

Tumor suppressor genes, Melanoma

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Clinical implications of the hemochromatosis gene

Article Abstract:

Not everyone who has the gene mutation linked to hemochromatosis will develop symptoms. Hemochromatosis is characterized by excessive blood levels of iron, which can damage the liver and other organs. In a 1999 study of an Italian family, none of the 15 family members who had hemochromatosis had the C282Y gene mutation. Other studies have shown that even people who do have this mutation may not have any symptoms of hemochromatosis. Studies have also documented that patients who have elevated blood iron levels do not necessarily have liver damage.

Hemochromatosis

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