MYH7突變對身體的影響
近期的研究指出，心臟β-肌球蛋白重鏈基因（MYH7）的突變可能與左心室非融合型心肌病（LVNC）有關。其中MYH7 R723G突變會導致心肌細胞和腓腸肌纖維的鈣敏感性降低。這項研究於2023年8月21日發表。
MYH7基因編碼的肌球蛋白是一種由6個亞單位組成的蛋白質，包含2個重鏈亞單位、2個鹼性輕鏈亞單位和2個調節性輕鏈亞單位。這個基因編碼的β（或慢）重鏈亞單位主要在正常人的心室中表達。它也在富含慢肌纖維的骨骼肌組織中表達。這種蛋白質和α（或快）重亞單位的相對豐度的變化可能與心肌功能的調節有關。
MYH7基因突變可能導致肌球蛋白的功能異常，進而對心臟功能產生影響。例如，R723G突變會導致心肌細胞和腓腸肌纖維對鈣離子的敏感性降低。鈣離子在心肌收縮過程中起著重要的調節作用，而突變可能導致心肌收縮功能的異常。
LVNC是一種罕見的心肌病，其特徵是左心室壁存在非融合的心肌結構。這種結構異常可能導致心臟功能受損，並增加心臟衰竭和心律不整的風險。MYH7基因突變被認為是LVNC的一個重要遺傳因素。
對於患有MYH7突變的患者，醫生可能會建議進行心臟評估和監測，以確定心臟功能是否受到影響。治療可能包括藥物治療、心臟手術或其他干預措施，以提高心臟功能並減少併發症的風險。
總之，MYH7基因的突變可能導致心肌功能異常，與左心室非融合型心肌病相關。了解這種突變對身體的影響可以幫助醫生更好地評估和治療相關疾病。
折疊內容
Left ventricular non-compaction cardiomyopathy can be associated with mutation of the cardiac beta-myosin heavy chain gene (MYH7). The MYH7 R723G mutation causes reduced calcium-sensitivity in both cardiomyocytes and soleus fibers.Aug 21, 2023
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MYH7 myosin heavy chain 7 [ Homo sapiens (human)
]
Gene ID: 4625, updated on
21-Aug-2023
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Official
Symbol
MYH7provided by HGNC
Official
Full Name
myosin heavy chain 7provided by HGNC
Primary source
HGNC:HGNC:7577
See related
Ensembl:ENSG00000092054
MIM:160760;
AllianceGenome:HGNC:7577
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CMH1; MPD1; SPMD; SPMM; CMD1S; MYHCB; CMYP7A; CMYP7B
Summary
Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subu
Read More: What does MYH7 mutation do?