LDHA gene
The LDHA gene provides instructions for making a protein essential for energy production in skeletal muscles, and mutations in this gene can lead to lactate dehydrogenase deficiency.
Normal Function
The LDHA gene provides instructions for making a protein called lactate dehydrogenase-A, which is one subunit of the lactate dehydrogenase enzyme. There are five different forms of this enzyme, each composed of four protein subunits. These forms are created through various combinations of lactate dehydrogenase-A and lactate dehydrogenase-B subunits.
The lactate dehydrogenase enzyme is found throughout the body and is critical for a chemical reaction that provides energy. The version of the enzyme made of four lactate dehydrogenase-A subunits is found primarily in skeletal muscles. During high-intensity physical activity (anaerobic exercise), when oxygen intake is insufficient to meet energy demands, the body breaks down stored glycogen. In the final stage of this process, the lactate dehydrogenase enzyme converts pyruvate into lactate, which the body then uses for energy.
Health Conditions Related to Genetic Changes
Lactate dehydrogenase deficiency
At least eight mutations in the LDHA gene have been identified as causes of lactate dehydrogenase-A deficiency. This condition is characterized by the following:
- Extreme tiredness following high-intensity exercise or strenuous activity.
- Breakdown of muscle tissue (rhabdomyolysis).
- Muscle weakness.
Mutations in the LDHA gene result in an abnormal lactate dehydrogenase-A subunit that cannot bind to other subunits to form the functional enzyme. This reduction in enzyme activity prevents the efficient breakdown of glycogen, leading to insufficient energy in muscle cells during strenuous activity.
Other Names for This Gene
- L-lactate dehydrogenase A chain
- lactate dehydrogenase M
- LDH muscle subunit
- LDH-A
- LDH-M
- LDH1
- LDHA_HUMAN
- LDHM
Genomic Location
The LDHA gene is found on chromosome 11.