Genetics is the study of inheritance with many overlapping concepts. Classical genetics studies genes that form the basis for inherited physical traits such as eye color. Cytogenetics looks at the structure of chromosomes in a karyotype obtained before birth in amniotic fluid, and afterwards in blood.
One autoantibody associated with limbic encephalitis (LE) targets intracellular neuronal antigens (IAg) (GAD65 receptor) and three others target the neuronal surface antigens (SAg) (NMDA [N-methyl-D-aspartate) receptor, VGKC [voltage-gated potassium channel]-complex, and AMPA [α‐amino‐3‐hydroxy‐5‐methylisoxazole‐4‐propionic acid] receptor).
While Hashimoto’s thyroiditis (HT) is well understood and a cornerstone for understanding autoimmune thyroid disease, Hashimoto’s encephalopathy (HE) remains a challenge to clinicians not so much for its effective management, but because of the potential for unraveling an important aspects of autoimmune encephalitis, and related childhood and adult cognitive and neuropsychiatric disorders.
HISTORICAL BACKGROUND: In 1912, Hakaru Hashimoto published a description of the disorder named in his honor, Hashimoto’s thyroiditis (HT), in the German literature hoping that it would make his findings more available around the world. Four women, all over age 40, showed a preponderance of lymphoid follicles, with parenchymal and interstitial changes, one of whom was hypothyroid.
RCCX is a multi-allelic copy number variation locus that is known for being one of the longest in humans, and named after the genes STK19, formerly RP, C4 (complement component 4), CYP21 (steroid 21-hydroxylase) and TNX (tenascin-X). The RCCX complex or module, is located in the human leucocyte antigen (HLA) major histocompatibility complex (MHC) on chromosome 6p21.3.
MicroRNA (miRNA) are small non-coding RNA molecules that contain about 22 nucleotides and function as silencers and regulators of mRNA that conveys genetic information from DNA, to specify the amino acid sequence of the protein products of gene expression through the process known as post-transcription gene regulation.