Emily Schmitt Sepiapterin Reductase-Beery Twins Story

Last updated
Save as PDF

Page ID: 108138

\( \newcommand{\vecs}[1]{\overset { \scriptstyle \rightharpoonup} {\mathbf{#1}} } \) \( \newcommand{\vecd}[1]{\overset{-\!-\!\rightharpoonup}{\vphantom{a}\smash {#1}}} \)\(\newcommand{\id}{\mathrm{id}}\) \( \newcommand{\Span}{\mathrm{span}}\) \( \newcommand{\kernel}{\mathrm{null}\,}\) \( \newcommand{\range}{\mathrm{range}\,}\) \( \newcommand{\RealPart}{\mathrm{Re}}\) \( \newcommand{\ImaginaryPart}{\mathrm{Im}}\) \( \newcommand{\Argument}{\mathrm{Arg}}\) \( \newcommand{\norm}[1]{\| #1 \|}\) \( \newcommand{\inner}[2]{\langle #1, #2 \rangle}\) \( \newcommand{\Span}{\mathrm{span}}\) \(\newcommand{\id}{\mathrm{id}}\) \( \newcommand{\Span}{\mathrm{span}}\) \( \newcommand{\kernel}{\mathrm{null}\,}\) \( \newcommand{\range}{\mathrm{range}\,}\) \( \newcommand{\RealPart}{\mathrm{Re}}\) \( \newcommand{\ImaginaryPart}{\mathrm{Im}}\) \( \newcommand{\Argument}{\mathrm{Arg}}\) \( \newcommand{\norm}[1]{\| #1 \|}\) \( \newcommand{\inner}[2]{\langle #1, #2 \rangle}\) \( \newcommand{\Span}{\mathrm{span}}\)\(\newcommand{\AA}{\unicode[.8,0]{x212B}}\)

Exercise \(\PageIndex{1}\)

Which mutation was contributed by the mother that affected the Sepiapterian reductase (SPR) in the Beery Twins situation? STR model with mother mutation.jpg

Answer

a) early stop of the protein (Lys to termination) Lys251X

b) Arg 150 Gly

c) there was no mutation from the mother that caused the disease

d) Lys 250 Glu

Here is a hint if you need one

Authored by [YOUR NAME]. Last update: [FILL IN DATE]

Date of origin

Introduction - Meet the Beery Twins

New Heading

[ADD TEXT]

Beery twins pathway.png

Figure 1: The pathway above shows where the drugs given to the twins exist in the pathway that involves Sepiapterin Reductase (SPR). Note that the twins were prescribed 5-HTP and L-Dopa which are downstream of the "broken" SPR. In this way dopamine and serotonin can still be produced in the twins.

Figure 2: iCN3D recreation of Alen et al., 2019 Figure 5- Crystal structure of inhibitor 3 bound to SPR (PDB code 6I6P)

Figure \(\PageIndex{x}\) is an interactive iCn3D model of [INSERT DESCRIPTIVE TEXT - often a modified version of the title from the actual PDB page (INSERT PDB CODE)]

INSERT PNG (just a screen snip) OF YOUR iCn3D MODEL

Figure \(\PageIndex{6}\): [INSERT THE PDB TITLE as above (INSERT PDB CODE)]. Click the image for a popup or use this external link: [INSERT Lifelong short URL from File, Share Link in iCn3D)]. (Copyright; author via source). iCn3D model made by [YOUR NAME]

[ADD MATHEMATIC GRAPH - REU

SE]

*your text and graph

Figure \(\PageIndex{x}\): Add caption

[ADD VCELL/SBML SIMULATION - REUSE]

*your text before and after insert as needed

Exercise \(\PageIndex{1}\)

Introduction - Meet the Beery Twins

New Heading

3k83 Interactive iCn3D model