Mitochondrial Disease Sudden Infant Death Syndrome SIDS Zachary

Mitochondrial Disease Sudden Infant Death Syndrome (SIDS) Zachary Sweatman AP Biology Mrs. Sintich

Structure of Mitochondria • • They are made of two membranes. The outer membrane covers the organelle and contains it like a skin. The inner membrane folds over many times and creates layered structures called cristae. Cristae contain enzymes that is used in ATP. Also the inner membrane creates a space that is known as a matrix. Mitochondria also have their own set of DNA that they can use to replicate.

Normal Functions of Mitochondria • The most important functions of mitochondria are to produce the energy currency of the cell, ATP, through respiration, and to regulate cellular metabolism. The main reactions that are used to produce adenosine triphosphate is known as the Krebs Cycle. Mitochondria are universally known as the "powerhouse of the cell. "

What is SIDS? • Sudden infant death syndrome (SIDS), is the sudden unexplained death of a child less than one year of age. To be SIDS, It is required that the death remains unexplained even after a thorough autopsy and detailed death scene investigation. SIDS usually occurs during sleep. But we have discovered that SIDS is partly in result of 3 mitochondrial diseases known as: NARP, MCAD, and LCHAD. Even though doctors haven't found the root cause of SIDS they know that these diseases affect the mitochondria and are no doubt part of the equation to find a reason them cure for SIDS.

What NARP does to Mitochondria • NARP stands for neuropathy ataxia retinitis pigmentosa. It's a degeneration of the mitochondria and is found in all autopsied babies that doctors declare dead from SIDS. Mutations in the MT-ATP 6 gene alter the structure or function of ATP synthesis, reducing the ability of mitochondria to make ATP. Doctors are sure that NARP plays a role in the attacks on the body that SIDS has, but can't find out how prevalent NARP is because all the patients with it die as newborn infants. NARP makes the baby tired and lethargic.

What MCAD does to Mitochondria • Medium-chain acyl-coenzyme A dehydrogenase (MCAD) is one of the enzymes involved in mitochondrial fatty acid β-oxidation, which fuels hepatic ketogenesis, a major source of energy once initial ATP stores are down. Because NARP depletes ATP synthesis and MCAD mutates the specific enzyme named above, the baby literally is drained of all of its energy. That causes the baby to sleep a lot and while sleeping the baby has a seizure (which is invisible because muscles have no energy to contract) and the baby goes into a coma and dies within minutes. MCAD mutates a specific enzyme in the mitochondria that affect ATP synthesis.

What LCHAD does to the Mitochondria • Long-chain 3 -hydroxyacyl-Co. A dehydrogenase (LCHAD) deficiency is a rare condition that prevents the body from converting certain fats to energy because of a mutation in the HADHA gene. The HADHA gene provides instructions for making part of an enzyme complex called mitochondrial trifunctional protein. This enzyme complex tells the membranes of the mitochondria how to form and keep form. The converting of the certain fats is the last chance the baby has for getting the energy it needs and with this mutation the baby will certainly receive no more energy and will die of SIDS.

Conclusion Paragraph • NARP and the two mutations basically work together to destroy the energy source of the cells in a baby. After NARP stops ATP synthesis, and MCAD mutates the gene that could give the baby more energy, and LCHAD stops the conversion of fats to keep the baby alive, SIDS is born and the baby dies. No certain disease or mutation causes SIDS (or one that doctors know about), these three causes are found in the mitochondria. Mitochondrial disease can be found throughout the lifetime but for some reason only babies die of this mysterious ailment.

Citations • http: //ghr. nlm. nih. gov/condition/neuropathy-ataxia -and-retinitis-pigmentosa • http: //www. ncbi. nlm. nih. gov/books/NBK 1424/ • http: //ghr. nlm. nih. gov/condition/long-chain-3 hydroxyacyl-coa-dehydrogenase-deficiency