“Leigh Syndrome”, Victor McKusick, Mendelian Inheritance in Man, 1966. 利氏综合症。(NULS).

Here I present: “Leigh Syndrome”, Victor McKusick, Mendelian in Inheritance in Man’, 1966. 利氏综合症。(NULS).

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 an absent level of thiamine triphosphate. This is thought to be caused by a blockage in the enzyme thiamine-diphosphate kinase (Enzyme Commission number EC# 2.7.4.15), and therefore treatment in some patients would be to take thiamine triphosphate daily.  While the majority of patients typically exhibit symptoms between the ages of 3 and 12 months.

Nuclear Leigh syndrome (NULS) can be caused by mutations in nuclear-encoded genes involved in any of the mitochondrial respiratory chain complexes (5 complexes shown ABOVE).

NADH dehydrogenase [ubiquinone] type-1 alpha subcomplex subunit 10 is an enzyme that in humans is encoded by the NDUFA10 gene. The NDUFA10 protein is a subunit of NADH dehydrogenase (ubiquinone), which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain. Mutations in subunits of NADH dehydrogenase (ubiquinone), also known as Complex I, frequently lead to complex neurodegenerative diseases such as Leigh syndrome.

There is evidence that Nuclear Leigh syndrome (NULS) is polygenic and can be caused by mutation in the NDUFA10 gene on cytogenetic location  2q37.3 and genomic coordinates 2:239,892,442-240,025,342 . The screenshot of the NDUFA10 gene 132,901 bp (base pairs) of DNA sequence length is shown BELOW.  Nine (9) other genes besides NDUFA10 in the 2q37.3 cytogenetic location are listed BENEATH.