Here I present: “Leigh Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 利綜合症。(NULS & MILS).
INTRODUCTION.
Leigh syndrome is an inherited neurometabolic disorder that affects the central nervous system. It is named after Archibald Denis Leigh, a British neuropsychiatrist who first described the condition in 1951. Normal levels of thiamine, thiamine monophosphate, and thiamine diphosphate are commonly found, but there is a reduced or absent level of thiamine triphosphate. This is thought to be caused by a blockage in the enzyme thiamine-diphosphate kinase, and therefore treatment in some patients would be to take thiamine triphosphate daily. The majority of patients typically exhibit symptoms between the ages of 3 and 12 months.
Surfeit locus protein type-1 (SURF1) is a protein that is encoded by the SURF1 gene. The protein encoded by SURF1 is a component of the mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex (MITRAC complex), which is involved in the regulation of cytochrome c oxidase assembly. Defects in this gene are a cause of Leigh syndrome is a severe neurological disorder that exists in two (2) different forms: nuclear Leigh syndrome (NULS) and mitochondrial Leigh syndrome (MILS).
There is evidence Leigh syndrome can be caused by mutation of the surfeit locus protein type-1 (SURF1) encoded on cytogenetic location 9q34.2 and genomic coordinates 9:133,351,758-133,356,487. The screenshot of the SURF1 gene 4,730 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides SURF1 in the 9q34.2 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 9:133,250,401 | ABO | ABO glycosyltransferase |
| 9:133,328,776 | SURF6 | Surfeit-6 |
| 9:133,338,312 | SURF5 | Surfeit-5 |
| 9:133,348,218 | RPL7A | Ribosomal protein L7a (surfeit-3) |
| 9:133,351,758 | SURF1 | Surfeit-1 |
| 9:133,356,550 | SURF2 | Surfeit-2 |
| 9:133,361,464 | SURF4 | Surfeit-4 |
| 9:133,376,366 | STKLD1 | Serine/threonine kinase-like domain containing 1 |
| 9:133,406,058 | REXO4 | REX4 homolog, 3′,5′-exonuclease |
| 9:133,414,337 | ADAMTS13 | ADAM metallopeptidase thrombospondin motif 13 |
