สาเหตุของโรคทางพันธุกรรมมีหลายประการ โรคเหล่านี้ส่วนใหญ่มีสาเหตุมาจากการกลายพันธุ์แบบเดียวกันที่ส่งผลต่อสมาชิกในครอบครัว ตัวอย่างเช่น ในโรคเส้นประสาทส่วนปลายตาทางพันธุกรรมของ Leber ข้อผิดพลาดของ DNA ที่นำไปสู่ภาวะนี้เป็นสาเหตุของการตาบอด สำหรับโรคปลายประสาทอักเสบจากเบาหวาน คุณสามารถใช้ยากันชักได้อย่างมีประสิทธิภาพ https://ihealzy.com/pregabalin-or-lyrica/ การกลายพันธุ์เหล่านี้เกิดขึ้นในไมโตคอนเดรียของเซลล์ ซึ่งผลิตพลังงานให้กับเซลล์ เดิมทีเชื่อกันว่าไมโตคอนเดรียมี DNA ของแบคทีเรีย แต่การศึกษาเมื่อเร็ว ๆ นี้แสดงให้เห็นว่าไมโตคอนเดรียมี DNA ของแบคทีเรีย นี่แสดงให้เห็นว่าไมโตคอนเดรียยังมี DNA จากแหล่งต่างๆ อีกด้วย
ความผิดปกติบางอย่างเหล่านี้สืบทอดมา โรคเม็ดเลือดรูปเคียวอาจเกิดจากยีนกลายพันธุ์บนโครโมโซม 11 โรคนี้มีลักษณะเฉพาะคือโรคโลหิตจางและภาวะแทรกซ้อนอื่นๆ สาเหตุอื่นๆ ของโรคทางพันธุกรรม ได้แก่ ความผิดปกติของยีนเดี่ยวและโรคทางพันธุกรรมที่ซับซ้อน การกลายพันธุ์ในยีนเพียงยีนเดียวสามารถนำไปสู่โรคได้ และสามารถสืบทอดได้จากทั้งพ่อและแม่ โดยปกติโครโมโซมจะมี 23 คู่ และความผิดปกติที่เกิดจากการมีโครโมโซมเกินมาเรียกว่าไทรโซมี ส่วน X-azygote ที่ขาดหายไปนั้นเรียกว่า monosomy
ความผิดปกติทางพันธุกรรมอื่นๆ ทำให้เกิดปัญหาการกินและการย่อยอาหาร บางรายทำให้เกิดความผิดปกติของแขน ขา หรือใบหน้า เช่น ปากแหว่งเพดานโหว่ บางชนิดทำให้เกิดอาการทางระบบประสาท เช่น โรคหลอดเลือดสมอง และอาการชัก เงื่อนไขเหล่านี้สามารถระบุได้โดยใช้การทดสอบ DNA ซึ่งแสดงว่ายีนใดได้กลายพันธุ์ ผู้ให้คำปรึกษาทางพันธุกรรมสามารถอธิบายความเสี่ยงและวิธีการปกป้องสุขภาพของคุณได้ สิ่งสำคัญคือต้องทราบว่าบางคนอาจมีความผิดปกติทั้งสองประเภท สิ่งสำคัญคือต้องเข้าใจความเสี่ยงของโรคทางพันธุกรรมและวิธีการรักษา
โรคเหล่านี้บางชนิดมีสาเหตุมาจากการกลายพันธุ์ของยีนตัวเดียว ในขณะที่โรคอื่นๆ เกิดจากรูปแบบการถ่ายทอดที่ซับซ้อนซึ่งเกี่ยวข้องกับยีนหลายตัว ดังนั้นจึงเป็นไปไม่ได้ที่จะทราบได้ว่ายีนใดที่จะทำให้เกิดโรคและจะถ่ายทอดทางพันธุกรรมหรือไม่ ไม่ทราบยีนที่กำหนดว่าโรคนี้จะเกิดขึ้นหรือไม่ ความผิดปกติทางพันธุกรรมอาจต้องมีการกลายพันธุ์หลายครั้งก่อนที่โรคจะแสดงออกมา ดังนั้นจึงเป็นเรื่องสำคัญมากสำคัญที่ต้องเรียนรู้ให้มากที่สุดเกี่ยวกับสาเหตุของโรคทางพันธุกรรมที่มีอยู่ในครอบครัวใด ๆ
มีโรคทางพันธุกรรมจำนวนหนึ่งที่สามารถส่งผลกระทบต่อบุคคลได้ ส่วนใหญ่สืบทอดมาและบางส่วนเกิดจากปัจจัยด้านสิ่งแวดล้อม ในบางกรณี ปัจจัยด้านสิ่งแวดล้อมหรือวิถีชีวิตอาจถูกตำหนิสำหรับภาวะนี้ แพทย์ไม่สามารถวินิจฉัยผู้ป่วยตามอาการเพียงอย่างเดียวได้ แต่เขาหรือเธอสามารถสั่งการทดสอบที่เหมาะสมเพื่อหาสาเหตุที่แท้จริงของอาการเฉพาะได้
ในกรณีอื่นๆ โรคทางพันธุกรรมอาจซับซ้อนหรือเกิดจากยีนเดี่ยวก็ได้ บางส่วนเกิดจากการกลายพันธุ์ในยีนตัวเดียว ความผิดปกติทางพันธุกรรมอื่นๆ มีหลายยีนหรือซับซ้อน การติดเชื้อที่ทำให้เกิดการกลายพันธุ์ในยีนตัวเดียวไม่ถือเป็นกรรมพันธุ์ ตัวอย่างเช่น ยีนกลายพันธุ์ในมนุษย์อาจทำให้เกิดคอเลสเตอรอลสูงได้ ในทำนองเดียวกัน ไวรัสและแบคทีเรียก็ส่งผลต่อระบบเผาผลาญได้
สาเหตุของโรคทางพันธุกรรมอาจส่งผลต่อนิสัยการกิน ระบบย่อยอาหาร และสุขภาพโดยรวมของบุคคล โรคเหล่านี้อาจส่งผลต่อแขนขาหรือใบหน้าของแต่ละบุคคล บางรายอาจส่งผลให้หูหนวก กล้ามเนื้อตึง หรือทั้งอวัยวะได้ ความผิดปกติทางพันธุกรรมมีสองประเภทพื้นฐาน ในบางกรณี โรคนี้สามารถถ่ายทอดจากผู้ปกครองคนใดคนหนึ่งได้ บุคคลอาจได้รับผลกระทบจากยีนตัวเดียวหรือมากกว่าหนึ่งยีน
โครโมโซมที่สืบทอดมาคือโครงสร้างของจีโนมของบุคคล ประกอบด้วยยีนที่ก่อให้เกิดโรคต่างๆ ในมนุษย์ ในกรณีของบุคคลที่เป็นโรคเคียวเซลล์ โครโมโซมจะกลายพันธุ์ในยีนใดยีนหนึ่ง สาเหตุนี้เกิดจากโรคโลหิตจางและโรคอื่นๆ ในบางกรณี กลุ่มอาการนี้ถ่ายทอดทางพันธุกรรมได้ ความผิดปกติทางพันธุกรรมอาจเกิดจากสภาพแวดล้อมด้วย
มีโรคทางพันธุกรรมหลายชนิดที่มีรูปแบบการถ่ายทอดที่ซับซ้อน รูปแบบการถ่ายทอดทางพันธุกรรมมีความซับซ้อนมากและไม่มีใครคาดเดาได้ว่าบุคคลจะเกิดโรคได้อย่างไร จึงมีสาเหตุของโรคทางพันธุกรรมมากมาย สิ่งสำคัญคือต้องเข้าใจสาเหตุของโรคเหล่านี้ก่อนตัดสินใจ แพทย์ควรตระหนักถึงสาเหตุและอาการที่เกิดขึ้น สิ่งนี้สามารถช่วยผู้ป่วยในการตัดสินใจอย่างมีข้อมูล การส่งต่อผู้ป่วยไปยังผู้เชี่ยวชาญอาจช่วยได้เช่นกัน
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