日誌

罕病天使-陳婉坪的線狀體肌肉病變，怎麼治？(缺鎂鋅錳，建議善存+豆漿+茶。) ... ...

已有 237 次閱讀2019-11-10 02:10 AM

故事：

【罕病天使-陳婉坪的故事】預告

喪失了觸覺，最後連五感都失去

https://www.youtube.com/watch?v=78J1CQIV1QQ

多重疾病、肢體不便少女譜曲作畫還創line貼圖

https://health.ndu(的相反).com/health/story/5960/2903412

導讀：
線狀體肌肉病變 Nemaline Rod Myopathy
肌肉張力特別低(看到下方內容就可知道缺少肌動蛋白)
脊椎側彎還是越來越嚴重，加上容易感冒(免疫力差)
患者在肌肉切片檢查中，可發現肌細胞上有顯著線狀體(nemaline body)的沈積
節錄自http://www.tfrd.org.tw/tfrd/library_b2/content/category_id/1/id/8
近年來嚴重新生兒型線狀體肌肉病變中ACTA1基因突變比例增高
節錄自http://www.tfrd.org.tw/tfrd/rare_b/view/id/96

The ACTA1 gene provides instructions for making a protein called
skeletal alpha (α)-actin, which is part of the actin protein family.
Actin proteins are important for cell movement and the tensing of
muscle fibers (muscle contraction). These proteins also help maintain
the cytoskeleton, which is the structural framework that determines cell shape
and organizes cell contents.
ACTA1基因提供了製造稱為骨骼α（α）-肌動蛋白的蛋白質的指令，
該蛋白質是肌動蛋白家族的一部分。
肌動蛋白對細胞運動和肌肉纖維的緊張（肌肉張力、肌肉收縮）很重要。
這些蛋白質也有助於維持細胞骨架，細胞骨架是決定細胞形狀和組織細胞內容的結構框架。
節錄自https://ghr.nlm.nih.gov/gene/ACTA1
肌肉張力(Muscle Tone)
https://blog.easepain.tw/dr-bao-ot-wu/muscle-tone/
muscle tone (residual muscle tension or tonus) is the continuous and passive
partial contraction of the muscles
肌肉張力（殘餘肌肉張力或張力）是肌肉的連續和被動局部收縮
節錄自https://en.wikipedia.org/wiki/Muscle_tone

這個突變影響了他的ADCY5基因，導致他的肌肉無法正常收縮，出現運動障礙。
ADCY5基因的蛋白質屬性
Cofactor輔因子:Name=Mg(2+)鎂;Name=Mn(2+)錳
節錄自http://www.eyny.com/blog-5788411-768242.html

脊椎側彎怎麼治總整理(缺鋅銅錳維它命CDB6，可能也缺硒，建議善存+豆漿+茶。)
http://www.eyny.com/blog-5788411-767511.html

Adult-onset Nemaline Myopathy Coexisting With Myasthenia Gravis
成人發病的Nemaline肌病與重症肌無力共存
節錄自https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5291559/

如何治療重症肌無力？Part-V(缺鋅、維它命D的證據，建議善存、桂格特級完膳。)
http://www.eyny.com/blog-5788411-766530.html

The nemaline myopathies are characterized by weakness and eosinophilic
nemaline肌病的特點是無力和嗜酸性
節錄自https://www.sciencedirect.com/science/article/pii/S0002929707632753

缺鎂，嗜酸性粒細胞(eosinophils)也增加
缺鋅增加嗜酸性粒細胞
Manganese(錳)、Copper(銅)和Eosinophil count(嗜酸性粒細胞計數)
負相關(錳多銅多，嗜酸性粒細胞就低，而且效果比鎂鋅還好。)
節錄自http://www.eyny.com/blog-5788411-767503.html

Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation
具有與ACTA1突變相關的僵硬和高血壓的Nemaline肌病
Nemaline myopathy, known to be caused by mutations in 7 genes,
including skeletal muscle α-actin (ACTA1)
Nemaline肌病，已知由7種基因突變引起，包括骨骼肌α-肌動蛋白（ACTA1）
節錄自https://www.researchgate.net/publication/221971200

Spasticity is a condition in which certain muscles are continuously contracted.
This contraction causes stiffness or tightness of the muscles
痙攣狀態是某些肌肉持續收縮的狀態。這種收縮導致肌肉僵硬或緊繃
節錄自https://www.aans.org/Patients/Neurosurgical-Conditions-and-Treatments/Spasticity

全身筋攣，出現運動障礙，缺鎂錳，建議善存+豆漿+茶。
http://www.eyny.com/blog-5788411-768242.html

高血壓，怎麼治？(近半數國人血壓控制不及格逾100萬人快要高血壓)
補充鎂降低血壓是確定的
γ-胺基丁酸(GABA)降低血管緊張素，γ-胺基丁酸(GABA)的產生和鎂、錳、維他命B6有關。
研究表明，鋅補充後收縮壓顯著降低。
節錄自http://www.eyny.com/blog-5788411-761920.html

小結1：
看到這裡，缺少肌動蛋白的線狀體肌肉病變似乎缺少鎂鋅錳。

An actin protein is the monomeric subunit of two types of filaments in cells:
microfilaments, one of the three major components of the cytoskeleton,
and thin filaments, part of the contractile apparatus in muscle cells.
肌動蛋白是細胞中兩種細絲的單體亞基：微絲，是細胞骨架的三個主要成分之一；
細絲，是肌細胞中收縮裝置的一部分。
It can be present as either a free monomer called G-actin (globular) or
as part of a linear polymer microfilament called F-actin (filamentous),
both of which are essential for such important cellular functions as the
mobility and contraction of cells during cell division.
Actin is an ATPase, which means that it is an enzyme that hydrolyzes ATP.
它可以稱為G-actin的游離單體（球狀）形式存在，也可以作為稱為F-actin的線性聚合物微絲
（絲狀形式）的一部分存在，兩者在細胞分裂期間對於重要的細胞功能（如細胞的活動性和收縮性）都是必不可少的。
節錄自https://en.wikipedia.org/wiki/Actin

Mg2+, at submicromolar concentrations, is needed for the nucleation of actin
[Maruyama (1981) J. Biol. Chem. 256, 1060-1062].
肌動蛋白的成核需要亞微摩爾濃度的Mg2+(鎂離子)
I show here that Mn2+ fulfils the same function.
我在這裡表明Mn2+(錳離子)具有相同的功能。
Mn2+ stabilizes actin nuclei and decreases the concentration
of the monomers at the steady state.
Mn2+(錳離子)穩定肌動蛋白核並降低穩態下單體濃度。
節錄自https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1144339/

Nemaline myopathy is a muscular wasting disease similar to muscular dystrophy
Nemaline肌病是一種類似於肌肉營養不良的肌肉萎縮性疾病
However, the actin defects causing myopathy are likely to be heterogeneous,
with only a few common trends observed among the actin mutants,
such as reduced polymerization capacity or an inability to fold properly.
然而，引起肌病的肌動蛋白缺陷可能是異質的，在肌動蛋白突變體中僅觀察到一些共同的趨勢
，例如聚合能力降低或無法正確折疊。
節錄自https://www.ncbi.nlm.nih.gov/pubmed/20088824

一、聚合能力降低：
All these cations produce typical double-stranded F-actin filaments.
Ni2+ and Zn2+ induce polymerization at lower concentrations than Mn2+.
所有這些陽離子產生典型的雙鏈F-肌動蛋白絲。Zn2+(鋅離子)引發的聚合反應濃度低於Mn2+(錳離子)。
節錄自https://www.researchgate.net/publication/22574971
At low ionic strength, removal of trace amounts of Ca2+ enhanced the
polymerization of actin, and that of Mg2+ inhibited it.
在低離子強度下，除去痕量的Ca2+(鈣離子)會增強肌動蛋白的聚合，而除去Mg2+(鎂離子)
則是抑制肌動蛋白的聚合。
節錄自https://www.sciencedirect.com/science/article/abs/pii/000527958190074X

二、無法正確折疊：
肌動蛋白是一種ATPase(ATP酶)，這意味著它是一種水解ATP的酶。
節錄自https://en.wikipedia.org/wiki/Actin
Actin...represents the “ATPase fold”, which is a centre of enzymatic
catalysis that binds ATP and Mg2+ and hydrolyzes the former to ADP plus phosphate.
肌動蛋白...代表“ ATPase(ATP酶)折疊”，它是酶催化的中心，結合ATP和Mg2+(鎂離子)並將其水解為ADP加磷酸鹽。
節錄自https://books.google.com.tw/books?id=9dCPDwAAQBAJ&pg=PA86&lpg=PA86 &dq=This+structure+represents+the+%E2%80%9CATPase+fold%E2%80%9D, +which+is+a+centre+of+enzymatic+catalysis+that+binds+ATP+and+Mg2%2B
The actin-activated ATPase activity, Ca2+ binding, and Ca+ sensitivity of
arterial myosin were also dependent upon Mg2+ concentration.
肌動蛋白活化的ATPase的活性，Ca2+的結合以及動脈肌球蛋白的Ca2+(鈣離子)敏感性
也取決於Mg2+(鎂離子)的濃度。
節錄自https://www.jstor.org/stable/12060?seq=1#page_scan_tab_contents
The actin fold.
肌動蛋白折疊。
All three are ATPases or kinases and bind ATP in association with Mg2+ or Ca2+.
The common fold consists of two alpha/beta domains
這三個都是ATP酶或激酶，並與Mg2+(鎂離子)或Ca2+(鈣離子)結合結合ATP，
共同折疊由兩個α/β結構域組成。
節錄自https://www.ncbi.nlm.nih.gov/pubmed/7781919
為什麼在這裡不強調補充鈣？
因為上方已經講了，聚合能力降低，除去痕量的Ca2+(鈣離子)會增強肌動蛋白的聚合，而除去Mg2+(鎂離子)則是抑制肌動蛋白的聚合。

小結2：
看到這裡
也許主要缺鎂或鎂錳
但是由於上方有
Adult-onset Nemaline Myopathy Coexisting With Myasthenia Gravis
成人發病的Nemaline肌病與重症肌無力共存
節錄自https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5291559/
如何治療重症肌無力？Part-V(缺鋅、維它命D的證據，建議善存、桂格特級完膳。)
http://www.eyny.com/blog-5788411-766530.html
所以也有可能缺鋅

總結以上：
建議補充鎂鋅錳治療線狀體肌肉病變
建議一天一粒男性/女性善存+多喝豆漿(https://yingyang.911cha.com/dWE=.html)+多喝茶(https://yingyang.911cha.com/OWY2.html)