Brain Squall (not a storm)

Reflection Blog #2

While I am primarily interested in developments in the field of oncology, I think I would like to take this opportunity to investigate biochemical pathways that have biological impacts other than malignancies. I have a particular interest in neurodegenerative disorders and those that affect the brain (my brain says no bias). I am also interested in the immune system, and what happens when the body’s defenses work against itself, as well as how an understanding of these processes can help scientist develop a wide range of treatments. Here are some of the diseases I have found intriguing:

1. Immunoglobulin A (IgA) nephropathy: IgA nephropathy affects the kidneys by attacking the glomeruli which are sets of looping blood vessels in the nephrons the tiny functional units of the kidneys that filter wastes and remove extra fluid from the blood. The buildup of IgA deposits inflames and damages the glomeruli, causing the kidneys to leak blood and protein into the urine.1

2. Romano-Ward Syndrome: In people with long QT syndrome, the part of the heartbeat known as the QT interval is abnormally long. This causes abnormalities in the time it takes to recharge the heart and can lead to abnormal heart rhythms. It is characterized by syncopal episodes and other electrocardiographic abnormalities and may result from mutations encoding subunits of the cardiac ion channels. 2

3. Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a condition that affects many of the body’s systems, particularly the brain, nervous system ,and muscles. This disorder is accompanied by symptoms that indicate central nervous system involvement including seizures, hemiparesis, hemianopsia, cortical blindness, and episodic vomiting. It is also caused be a series of genetic mutations and can lead to neurodegeneration.3

References:

(1)       IgA Nephropathy | NIDDK https://www.niddk.nih.gov/health-information/kidney-disease/iga-nephropathy (accessed Jan 30, 2019).

(2)       Reference, G. H. Romano-Ward syndrome https://ghr.nlm.nih.gov/condition/romano-ward-syndrome (accessed Jan 30, 2019).

(3)       Montagna, P.; Gallassi, R.; Medori, R.; Govoni, E.; Zeviani, M.; Di Mauro, S.; Lugaresi, E.; Andermann, F. MELAS Syndrome: Characteristic Migrainous and Epileptic Features and Maternal Transmission. Neurology 1988, 38 (5), 751–754.

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